{"id":1118,"date":"2015-02-24T13:10:23","date_gmt":"2015-02-24T10:10:23","guid":{"rendered":"http:\/\/e-endocrinology.gr\/?page_id=1118"},"modified":"2015-04-03T23:37:26","modified_gmt":"2015-04-03T20:37:26","slug":"3-14-%cf%83%cf%8d%ce%bd%ce%b4%cf%81%ce%bf%ce%bc%ce%b1-%ce%bc%ce%b5%ce%bb%ce%b1%ce%b3%cf%87%cf%81%cf%89%ce%bc%ce%b1%cf%84%ce%b9%ce%ba%cf%8e%ce%bd-%cf%83%cf%84%ce%b9%ce%b3%ce%bc%ce%ac%cf%84%cf%89%ce%bd","status":"publish","type":"page","link":"https:\/\/e-endocrinology.gr\/?page_id=1118","title":{"rendered":"3.14 \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1: \u039a\u03bb\u03b9\u03bd\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03b9 \u039c\u03bf\u03c1\u03b9\u03b1\u03ba\u03ad\u03c2 \u03a0\u03c4\u03c5\u03c7\u03ad\u03c2 (Hamartoma and Lentiginosis Syndromes: Clinical and Molecular Aspects)"},"content":{"rendered":"

\n \n \"Print\n <\/a>\n <\/div><\/p>\n

 <\/p>\n

\u03a7\u03b1\u03c1\u03ac\u03bb\u03b1\u03bc\u03c0\u03bf\u03c2 \u039b\u03c5\u03c3\u03af\u03ba\u03b1\u03c4\u03bf\u03c2<\/em>
\n\u039a\u03c9\u03bd\u03c3\u03c4\u03b1\u03bd\u03c4\u03af\u03bd\u03bf\u03c2 \u0391. \u03a3\u03c4\u03c1\u03b1\u03c4\u03ac\u03ba\u03b7\u03c2<\/em>
\nEunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), NIH<\/p>\n

1. \u0395\u03b9\u03c3\u03b1\u03b3\u03c9\u03b3\u03ae<\/b><\/h4>\n

\u03a3\u03c4\u03b7\u03bd \u0399\u03b1\u03c4\u03c1\u03b9\u03ba\u03ae \u03bf \u03cc\u03c1\u03bf\u03c2 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1\u00a0 \u03ae \u03ba\u03b7\u03bb\u03af\u03b4\u03b5\u03c2 \u03c0\u03c1\u03bf\u03ad\u03c1\u03c7\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03bb\u03b1\u03c4\u03b9\u03bd\u03b9\u03ba\u03ae \u03bb\u03ad\u03be\u03b7 \u00a0<\/i>lentigo<\/i> <\/i>(\u03c0\u03bf\u03c5 \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 <\/i>\u03bc\u03b9\u03ba\u03c1\u03ae \u03c6\u03b1\u03ba\u03ae) \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u00a0\u03b5\u03c0\u03af\u03c0\u03b5\u03b4\u03b1 \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03ba\u03b7\u03bb\u03af\u03b4\u03b5\u03c2 \u03c3\u03c4\u03bf \u03b4\u03ad\u03c1\u03bc\u03b1 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03b5\u03c0\u03b9\u03b8\u03ae\u03bb\u03b9\u03bf1<\/sup>. \u03a7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf \u03bc\u03b9\u03ba\u03c1\u03cc \u03c4\u03bf\u03c5\u03c2 \u03bc\u03ad\u03b3\u03b5\u03b8\u03bf\u03c2 (<0.5 cm), \u03b1\u03ba\u03b1\u03bd\u03cc\u03bd\u03b9\u03c3\u03c4\u03b1 \u03cc\u03c1\u03b9\u03b1 \u03ba\u03b1\u03b9 \u03b4\u03b9\u03b1\u03ba\u03c1\u03b9\u03c4\u03ad\u03c2 \u03c3\u03b7\u03bc\u03ac\u03bd\u03c3\u03b5\u03b9\u03c2 \u03b1\u03c0\u03cc \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c7\u03c1\u03ce\u03c3\u03b5\u03b9\u03c2 \u03ba\u03b1\u03c6\u03ad \u03ba\u03b1\u03b9 \u03bc\u03b1\u03cd\u03c1\u03bf. \u03a4\u03b1 \u03bf\u03b9\u03ba\u03bf\u03b3\u03b5\u03bd\u03ae \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd \u03ae \u03ba\u03b7\u03bb\u03af\u03b4\u03c9\u03bd \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03bd\u03b5\u03c5\u03c1\u03b9\u03ba\u03ce\u03bd, \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ce\u03bd \u03ba\u03b1\u03b9 \u03bc\u03b5\u03c3\u03b5\u03b3\u03c7\u03c5\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03cc\u03b3\u03ba\u03c9\u03bd2<\/sup>. \u0397 \u03b9\u03c3\u03c4\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7 \u03b1\u03c5\u03c4\u03ce\u03bd \u03b1\u03c0\u03bf\u03ba\u03b1\u03bb\u03cd\u03c0\u03c4\u03b5\u03b9 \u03c0\u03ac\u03c7\u03c5\u03bd\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03b5\u03c0\u03b9\u03b4\u03b5\u03c1\u03bc\u03af\u03b4\u03b1\u03c2, \u03c5\u03c0\u03ad\u03c1\u03c7\u03c1\u03c9\u03c3\u03b7 \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd \u03c4\u03b7\u03c2 \u03b2\u03b1\u03c3\u03b9\u03ba\u03ae\u03c2 \u03c3\u03c4\u03b9\u03b2\u03ac\u03b4\u03b1\u03c2 \u03ba\u03b1\u03b9 \u03c5\u03c0\u03b5\u03c1\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03c4\u03c9\u03bd \u03bc\u03b5\u03bb\u03b1\u03bd\u03bf\u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd. \u03a4\u03bf \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03bf \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03b2\u03bf\u03b7\u03b8\u03ac \u03c3\u03c4\u03b7\u03bd \u03b9\u03c3\u03c4\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03b5\u03c6\u03b5\u03bb\u03af\u03b4\u03b5\u03c2, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03ad\u03c7\u03bf\u03c5\u03bd \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03cc \u03b1\u03c1\u03b9\u03b8\u03bc\u03cc \u03bc\u03b5\u03bb\u03b1\u03bd\u03bf\u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2, \u03bb\u03cc\u03b3\u03c9 \u03c4\u03b7\u03c2 \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7\u03c2 \u03bc\u03b5\u03bb\u03b1\u03bd\u03af\u03bd\u03b7\u03c2 \u03c3\u03c4\u03b1 \u03ba\u03b5\u03c1\u03b1\u03c4\u03b9\u03bd\u03b9\u03ba\u03ac \u03ba\u03cd\u03c4\u03c4\u03b1\u03c1\u03b1 \u03c4\u03b7\u03c2 \u03b2\u03b1\u03c3\u03b9\u03ba\u03ae\u03c2 \u03c3\u03c4\u03b9\u03b2\u03ac\u03b4\u03b1\u03c2 (\u0395\u03b9\u03ba\u03cc\u03bd\u03b1\u00a0 1).<\/p>\n

\n

\"3.14image1\"<\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 1.<\/b> \u0399\u03c3\u03c4\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03c9\u03bd \u03b5\u03c6\u03b5\u03bb\u03af\u03b4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd. \u0397 \u03bc\u03b5\u03b3\u03ad\u03bd\u03b8\u03c5\u03c3\u03b7 \u03c4\u03c9\u03bd \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd (\u03b4\u03b5\u03be\u03b9\u03ac) \u03b1\u03c0\u03b5\u03b9\u03ba\u03bf\u03bd\u03af\u03b6\u03b5\u03b9 \u03c4\u03b7 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03bb\u03b1\u03bd\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03ae \u03b4\u03b9\u03cc\u03b3\u03ba\u03c9\u03c3\u03b7.<\/p>\n

\n

\u039f\u03b9 \u03b5\u03c6\u03b5\u03bb\u03af\u03b4\u03b5\u03c2 \u03b1\u03c0\u03b1\u03bd\u03c4\u03ce\u03c4\u03b1\u03b9 \u03c3\u03c7\u03b5\u03b4\u03cc\u03bd \u03b1\u03c0\u03bf\u03ba\u03bb\u03b5\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03b9\u03c2 \u03b5\u03c0\u03b9\u03c6\u03ac\u03bd\u03b5\u03b9\u03b5\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03ba\u03c4\u03af\u03b8\u03b5\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf\u03bd \u03ae\u03bb\u03b9\u03bf, \u03b5\u03bd\u03ce \u03c4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03b5 \u03bf\u03c0\u03bf\u03b9\u03b1\u03b4\u03ae\u03c0\u03bf\u03c4\u03b5 \u03b5\u03c0\u03b9\u03c6\u03ac\u03bd\u03b5\u03b9\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03b5 \u03b1\u03bd\u03c4\u03af\u03b8\u03b5\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03b9\u03c2 \u03b5\u03c6\u03b5\u03bb\u03af\u03b4\u03b5\u03c2 \u03b4\u03b5 \u03c3\u03ba\u03bf\u03c5\u03c1\u03b1\u03af\u03bd\u03bf\u03c5\u03bd \u03bc\u03b5 \u03c4\u03bf\u03bd \u03ae\u03bb\u03b9\u03bf. \u0399\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ad\u03c2 \u03c5\u03c0\u03ad\u03c1\u03c7\u03c9\u03c3\u03b7\u03c2, \u03cc\u03c0\u03c9\u03c2 \u03bf\u03b9 \u03c0\u03b1\u03bb\u03ac\u03bc\u03b5\u03c2, \u03c4\u03b1 \u03c0\u03ad\u03bb\u03bc\u03b1\u03c4\u03b1, \u03bf \u03b5\u03c0\u03b9\u03c0\u03b5\u03c6\u03c5\u03ba\u03cc\u03c4\u03b1\u03c2, \u03c4\u03bf \u03cc\u03c1\u03b9\u03bf \u03c4\u03c9\u03bd \u03c7\u03b5\u03b9\u03bb\u03b9\u03ce\u03bd \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03bf\u03c5 \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf\u03c5 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03ba\u03b1\u03b9 \u03b4\u03ad\u03c1\u03bc\u03b1\u03c4\u03bf\u03c2, \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c3\u03b7\u03bc\u03b5\u03af\u03b1 \u03c4\u03c9\u03bd \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03ad\u03c7\u03bf\u03c5\u03bd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b5\u03bd\u03b4\u03b5\u03af\u03be\u03b5\u03b9\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1 \u03c5\u03c0\u03bf\u03ba\u03b5\u03af\u03bc\u03b5\u03bd\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03ae \u03c3\u03c5\u03c3\u03c4\u03b7\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c51<\/sup>.<\/p>\n

2. \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf <\/b>Peutz<\/b>–<\/b>Jeghers<\/b><\/b><\/h4>\n

\u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Peutz-Jeghers \u03b5\u03af\u03bd\u03b1\u03b9 \u03c4\u03bf \u03c0\u03b9\u03bf \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1.\u00a0\u00a0 \u0386\u03bb\u03bb\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bc\u03c0\u03bb\u03b5\u03b3\u03bc\u03b1 Carney (Carney complex, CNC), \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Laugier-Hunziker, \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Bannayan-Zonnana, \u03b7 \u03bd\u03cc\u03c3\u03bf\u03c2 \u03c4\u03bf\u03c5 Cowden \u03ba\u03b1\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf LEOPARD\/Noonan, \u03c0\u03bf\u03c5 \u03b8\u03b1 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03bf\u03cd\u03bd \u03c0\u03b1\u03c1\u03b1\u03ba\u03ac\u03c4\u03c9.<\/p>\n

\u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Peutz-Jeghers (PJS) \u03b5\u03af\u03bd\u03b1\u03b9 \u03ad\u03bd\u03b1 \u03c3\u03c0\u03ac\u03bd\u03b9\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ac \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf, \u03c0\u03bf\u03c5 \u03ba\u03bb\u03b7\u03c1\u03bf\u03bd\u03bf\u03bc\u03b5\u03af\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03bf\u03bd \u03b1\u03c5\u03c4\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03ac \u03b5\u03c0\u03b9\u03ba\u03c1\u03b1\u03c4\u03bf\u03cd\u03bd\u03c4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03ae\u03c1\u03b1,\u00a0 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 2.2\/100.00 \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b9\u03c3\u03cd\u03c1\u03b5\u03b9 \u03c5\u03c8\u03b7\u03bb\u03cc \u03c1\u03af\u03c3\u03ba\u03bf \u03b3\u03b9\u03b1 \u03ba\u03b1\u03ba\u03bf\u03ae\u03b8\u03b5\u03b9\u03b1. \u0397 \u03c3\u03c5\u03c3\u03c7\u03ad\u03c4\u03b9\u03c3\u03b7 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03b1\u03bc\u03b1\u03c1\u03c4\u03c9\u03bc\u03b1\u03c4\u03c9\u03b4\u03ce\u03bd \u03c0\u03bf\u03bb\u03c5\u03c0\u03cc\u03b4\u03c9\u03bd \u03c4\u03bf\u03c5 \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03bf\u03cd \u03c3\u03c5\u03c3\u03c4\u03ae\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ad\u03b3\u03b9\u03bd\u03b5 \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2\u00a0 Dr. Peutz \u03ba\u03b1\u03b9 Jeghers3,4<\/sup>.\u00a0 \u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b1 \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03ac \u03cc\u03b3\u03ba\u03c9\u03bd, \u03c3\u03c5\u03bc\u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03b1\u03bd\u03bf\u03bc\u03ad\u03bd\u03c9\u03bd \u03cc\u03b3\u03ba\u03c9\u03bd \u03c4\u03bf\u03c5 \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03bf\u03cd , \u03b1\u03c0\u03bf\u03c4\u03b9\u03c4\u03b1\u03bd\u03c9\u03bc\u03ad\u03bd\u03bf\u03c5\u03c2 \u03cc\u03b3\u03ba\u03bf\u03c5\u03c2 Sertoli \u03c4\u03c9\u03bd \u03cc\u03c1\u03c7\u03b5\u03c9\u03bd, \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03c4\u03c1\u03b1\u03c7\u03ae\u03bb\u03bf\u03c5 \u03c4\u03b7\u03c2 \u03bc\u03ae\u03c4\u03c1\u03b1\u03c2, \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03bc\u03b1\u03c3\u03c4\u03bf\u03cd, \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03c0\u03b1\u03b3\u03ba\u03c1\u03ad\u03b1\u03c4\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03b5\u03bd\u03b4\u03bf\u03bc\u03b7\u03c4\u03c1\u03af\u03bf\u03c5. \u0394\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03ba\u03ac \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Peutz-Jeghers \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u03bf\u03b9 \u03b1\u03bc\u03b1\u03c1\u03c4\u03c9\u03bc\u03b1\u03c4\u03ce\u03b4\u03b5\u03b9\u03c2 \u03c0\u03bf\u03bb\u03cd\u03c0\u03bf\u03b4\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03b7 \u03c5\u03c0\u03ad\u03c1\u03c7\u03c1\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03c9\u03bd. \u0397 \u03c5\u03c0\u03ad\u03c1\u03c7\u03c1\u03c9\u03c3\u03b7 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c3\u03c5\u03bd\u03ae\u03b8\u03c9\u03c2 \u03c3\u03ba\u03bf\u03cd\u03c1\u03b5\u03c2 \u03ba\u03b1\u03c6\u03ad-\u03bc\u03c0\u03bb\u03b5 \u03c7\u03c1\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ba\u03b7\u03bb\u03af\u03b4\u03b5\u03c2, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03b5\u03c2 \u03c0\u03b9\u03bf \u03c3\u03c5\u03c7\u03bd\u03ac \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03b1 \u03cc\u03c1\u03b9\u03b1 \u03c4\u03c9\u03bd \u03c7\u03b5\u03b9\u03bb\u03b9\u03ce\u03bd, \u03c3\u03c4\u03bf \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf \u03c4\u03b7\u03c2 \u03c3\u03c4\u03bf\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae\u03c2 \u03ba\u03bf\u03b9\u03bb\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5 \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03b5\u03c4\u03b5\u03c1\u03b9\u03ba\u03bf\u03cd, \u03cc\u03c0\u03c9\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b9\u03c2 \u03c0\u03b1\u03bb\u03ac\u03bc\u03b5\u03c2, \u03c4\u03b1 \u03c0\u03ad\u03bb\u03bc\u03b1\u03c4\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03c0\u03c1\u03c9\u03ba\u03c4\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae5<\/sup>. \u03a4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03c5\u03bd\u03ae\u03b8\u03c9\u03c2 \u03b1\u03c0\u03b1\u03bd\u03c4\u03ce\u03bd\u03c4\u03b1\u03b9 \u03bd\u03c9\u03c1\u03af\u03c2 \u03ba\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03c0\u03b1\u03b9\u03b4\u03b9\u03ba\u03ae \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03ba\u03b1\u03b9 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c4\u03b7\u03bd \u03c4\u03ac\u03c3\u03b7 \u03bd\u03b1 \u03b5\u03be\u03b1\u03c3\u03b8\u03b5\u03bd\u03bf\u03cd\u03bd \u03bc\u03b5 \u03c4\u03b7\u03bd \u03b5\u03bd\u03b7\u03bb\u03b9\u03ba\u03af\u03c9\u03c3\u03b7. \u03a3\u03c0\u03b1\u03bd\u03af\u03c9\u03c2 \u03b4\u03b5 \u03b5\u03bd\u03b4\u03b5\u03af\u03ba\u03bd\u03c5\u03c4\u03b1\u03b9 \u03b2\u03b9\u03bf\u03c8\u03af\u03b1.<\/p>\n

\u0397 \u03c0\u03bb\u03b5\u03b9\u03ac\u03b4\u03b1 \u03c4\u03c9\u03bd \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03c9\u03bd \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Peutz-Jeghers \u00a0(PJS) \u03bf\u03c6\u03b5\u03af\u03bb\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03b5\u03c4\u03b5\u03c1\u03cc\u03b6\u03c5\u03b3\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03b7 \u03c3\u03b5\u03c1\u03af\u03bd\u03b7-\u03b8\u03c1\u03b5\u03bf\u03bd\u03af\u03bd\u03b7 \u03ba\u03b9\u03bd\u03ac\u03c3\u03b7 STK<\/i>11\/<\/i>LKB<\/i>11, <\/i>\u03ad\u03bd\u03b1 \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03bf\u03bb\u03ad\u03b1\u03c2 \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7\u03c2 \u03cc\u03b3\u03ba\u03c9\u03bd, \u03c0\u03bf\u03c5 \u03b2\u03c1\u03af\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 19p13.36,7<\/sup>.\u00a0 \u039c\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf STK<\/i>11\/<\/i>LKB<\/i>11<\/i> \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03b2\u03c1\u03af\u03c3\u03ba\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03c3\u03c4\u03bf 80% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 PJS. \u00a0\u03a4\u03bf \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf <\/i>STK<\/i>11<\/i> \u03b5\u03af\u03bd\u03b1\u03b9 \u03ad\u03bd\u03b1 \u03ba\u03bb\u03b1\u03c3\u03c3\u03b9\u03ba\u03cc \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf \u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03bf\u03bb\u03ad\u03b1\u03c2 \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7\u03c2 \u03cc\u03b3\u03ba\u03c9\u03bd, \u03cc\u03c0\u03c9\u03c2 \u03b1\u03c0\u03bf\u03b4\u03b5\u03b9\u03ba\u03bd\u03cd\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03b5\u03c4\u03b5\u03c1\u03bf\u03b6\u03c5\u03b3\u03c9\u03c4\u03af\u03b1\u03c2 (LOH: Loss Of Heterozygosity) \u03c3\u03c4\u03b1 \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b1 \u03b1\u03b4\u03b5\u03bd\u03bf\u03ba\u03b1\u03c1\u03ba\u03b9\u03bd\u03ce\u03bc\u03b1\u03c4\u03b1 \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 PJS. \u00a0\u039f\u03b9 \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03bf\u03af \u03c0\u03bf\u03bb\u03cd\u03c0\u03bf\u03b4\u03b5\u03c2 \u03c3\u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03b1\u03bd\u03b1\u03c0\u03c4\u03cd\u03c3\u03c3\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5\u03c4\u03ac \u03b1\u03c0\u03cc \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf STK<\/i>11\/<\/i>LKB<\/i>11<\/i> \u03c3\u03b5 \u03c3\u03c5\u03bd\u03b4\u03c5\u03b1\u03c3\u03bc\u03cc \u03bc\u03b5 \u03c3\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7 \u03ae LOH \u03c4\u03bf\u03c5 \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03bf\u03cd \u03b1\u03bb\u03bb\u03af\u03bb\u03b9\u03bf\u03c58<\/sup>. \u039f\u03b9 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 PJS \u03b4\u03b5\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03b6\u03bf\u03c5\u03bd \u03c0\u03b9\u03bf \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03bf\u03cd \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf\u03c5, \u03b1\u03bd \u03ba\u03b1\u03b9 \u03c4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03b9\u03b8\u03b1\u03bd\u03bf\u03af \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03bf\u03af \u03cc\u03b3\u03ba\u03bf\u03b99<\/sup>.<\/p>\n

\u03a4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf PJS \u03bf\u03c6\u03b5\u03af\u03bb\u03b5\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03b1\u03c0\u03bf\u03c1\u03c1\u03cd\u03b8\u03bc\u03b9\u03c3\u03b7 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03b9\u03bf\u03cd\u03c3\u03b1 (upstream) \u03bf\u03b4\u03cc\u00a0 \u03c4\u03bf\u03c5 mTOR (mammalian Target Of Rapamycin), \u03ba\u03b1\u03b8\u03ce\u03c2 \u03b7 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7\u00a0 \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03b5 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u00a0\u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03c4\u03bf\u03c5 STK<\/i>11\/<\/i>LKB<\/i>11<\/i> \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03b1\u03bd\u03b1\u03c3\u03c4\u03ad\u03bb\u03b5\u03b9 \u03c4\u03b7\u03bd \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u0391\u039c\u03a1-\u03c0\u03c1\u03c9\u03c4\u03b5\u03ca\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b9\u03bd\u03ac\u03c3\u03b7\u03c2 (\u0391\u039c\u03a1\u039a), \u03b7 \u03bf\u03c0\u03bf\u03af\u03b1 \u00a0\u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03bf\u03c4\u03b5\u03af (downstream) \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03b9\u03bf\u03cd\u03c3\u03b1 \u03bf\u03b4\u03cc, \u03b3\u03b9\u03b1 \u03bd\u03b1 \u03b1\u03bd\u03b1\u03c3\u03c4\u03b5\u03af\u03bb\u03b5\u03b9 \u03c4\u03bf mTOR.\u00a0 \u03a4\u03bf mTOR \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03ad\u03bb\u03bf\u03c2 \u03c4\u03c9\u03bd \u03c6\u03c9\u03c3\u03c6\u03bf\u03ca\u03bd\u03bf\u03c3\u03b9\u03c4\u03b9\u03b4\u03bf-3-\u03ba\u03b9\u03bd\u03ac\u03c3\u03b5\u03c9\u03bd\u00a0 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03ae \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03ba\u03b1\u03b9 \u03c4\u03bf\u03bd \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03cc \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd10,11<\/sup>. \u0395\u03c0\u03af\u03c3\u03b7\u03c2, \u03ad\u03c7\u03b5\u03b9 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03c1\u03cc\u03bb\u03bf \u03c3\u03c4\u03b7 \u03b2\u03b9\u03bf\u03b3\u03ad\u03bd\u03b5\u03c3\u03b7 \u03c4\u03c9\u03bd \u03c1\u03b9\u03b2\u03bf\u03c3\u03bf\u03bc\u03ac\u03c4\u03c9\u03bd, \u03c3\u03c4\u03b7 \u03bc\u03b5\u03c4\u03ac\u03c6\u03c1\u03b1\u03c3\u03b7 \u03c4\u03c9\u03bd \u03c0\u03c1\u03c9\u03c4\u03b5\u03ca\u03bd\u03ce\u03bd \u03ba\u03b1\u03b9 \u03c4\u03bf \u03c3\u03c7\u03b7\u03bc\u03b1\u03c4\u03b9\u03c3\u03bc\u03cc \u03c4\u03b7\u03c2 \u03b1\u03ba\u03c4\u03af\u03bd\u03b7\u03c2 \u03c3\u03c4\u03bf\u03bd \u03c3\u03ba\u03b5\u03bb\u03b5\u03c4\u03cc \u03c4\u03bf\u03c5 \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03bf\u03c512<\/sup>.<\/p>\n

3. \u03a3\u03cd\u03bc\u03c0\u03bb\u03b5\u03b3\u03bc\u03b1 <\/b>Carney<\/b><\/b><\/h4>\n

\u03a4\u03bf \u03c3\u03cd\u03bc\u03c0\u03bb\u03b5\u03b3\u03bc\u03b1 Carney (Carney complex – CNC, OMIM## 160980, 608837): \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03b1\u03c5\u03c4\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03ba\u03c1\u03b1\u03c4\u03bf\u03cd\u03c3\u03b1 \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03ae \u03bd\u03b5\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd (lentiginosis sydrome) \u03c0\u03bf\u03c5 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03ba\u03b7\u03bb\u03b9\u03b4\u03ce\u03b4\u03b5\u03b9\u03c2 \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b1\u03bb\u03bb\u03bf\u03b9\u03ce\u03c3\u03b5\u03b9\u03c2 , \u03bc\u03c5\u03be\u03ce\u03bc\u03b1\u03c4\u03b1 \u03c3\u03c4\u03b7\u03bd \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac \u03ba\u03b1\u03b9 \u03c3\u03b5 \u03ac\u03bb\u03bb\u03bf\u03c5\u03c2 \u03b9\u03c3\u03c4\u03bf\u03cd\u03c2 \u00a0\u03ba\u03b1\u03b9 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd \u03c4\u03cd\u03c0\u03bf\u03c5 \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03b5\u03af\u03c2 \u03cc\u03b3\u03ba\u03bf\u03c5\u03c2. \u039f\u03b9 \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03bf\u03b9 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03bf\u03c5\u03bd, \u03c4\u03b7\u03bd \u03c0\u03c1\u03c9\u03c4\u03bf\u03c0\u03b1\u03b8\u03ae \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b7 \u03bf\u03b6\u03ce\u03b4\u03b7 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd (primary pigmented nodular adrenocortical disease – PPNAD), \u03c5\u03c0\u03bf\u03c6\u03c5\u03c3\u03b9\u03b1\u03ba\u03ae \u03c5\u03c0\u03b5\u03c1\u03c0\u03bb\u03b1\u03c3\u03af\u03b1\u00a0 \u03ae \u03c5\u03c0\u03bf\u03c6\u03c5\u03c3\u03b9\u03b1\u03ba\u03bf\u03af \u03cc\u03b3\u03ba\u03bf\u03c5\u03c2 (\u03c0\u03bf\u03c5 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b1\u03c0\u03cc \u03c5\u03c0\u03b5\u03c1\u03ad\u03ba\u03ba\u03c1\u03b9\u03c3\u03b7 \u03b1\u03c5\u03be\u03b7\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bf\u03c1\u03bc\u03cc\u03bd\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03c0\u03c1\u03bf\u03bb\u03b1\u03ba\u03c4\u03af\u03bd\u03b7\u03c2), \u03bd\u03b5\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b5\u03c2 \u03c4\u03c9\u03bd \u03b3\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd (\u03bc\u03b1\u03ba\u03c1\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03ce\u03bd \u03b1\u03c0\u03bf\u03c4\u03b9\u03c4\u03b1\u03bd\u03c9\u03bc\u03ad\u03bd\u03c9\u03bd \u03cc\u03b3\u03ba\u03c9\u03bd \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd Sertoli \u03ae \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd Leydig) \u03ba\u03b1\u03b9 \u03c4\u03bf\u03c5 \u03b8\u03c5\u03c1\u03b5\u03bf\u03b5\u03b9\u03b4\u03bf\u03cd\u03c2 \u03b1\u03b4\u03ad\u03bd\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c0\u03b1\u03bd\u03af\u03c9\u03c2 \u03ba\u03b1\u03bb\u03bf\u03ae\u03b8\u03b7 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03ba\u03cc\u03b7\u03b8\u03b7 \u03bc\u03b5\u03bb\u03b1\u03bd\u03c9\u03c4\u03b9\u03ba\u03ac \u03c3\u03b2\u03b1\u03bd\u03ce\u03bc\u03b1\u03c4\u03b1 -psammomatous melanotic schwannomas13, 14<\/sup>. T\u03bf CNC \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b5 \u03c4\u03bf 1985 \u03b1\u03c0\u03cc \u03c4\u03bf\u03bd \u03a0\u03b1\u03b8\u03bf\u03bb\u03bf\u03b3\u03bf\u03b1\u03bd\u03b1\u03c4\u03cc\u03bc\u03bf Dr. Carney \u03c9\u03c2 \u03c4\u03bf \u03c3\u03cd\u03bc\u03c0\u03bb\u03b5\u03b3\u03bc\u03b1: \u03bc\u03c5\u03be\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2, \u03ba\u03b7\u03bb\u03b9\u03b4o\u03b4\u03ce\u03bd \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03b5\u03c1\u03c7\u03c1\u03ce\u03c3\u03b5\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03c5\u03c0\u03b5\u03c1\u03b4\u03c1\u03b1\u03c3\u03c4\u03b7\u03c1\u03b9\u03cc\u03c4\u03b7\u03c4\u03b1\u03c215<\/sup>. \u039c\u03ad\u03c7\u03c1\u03b9 \u03c3\u03ae\u03bc\u03b5\u03c1\u03b1 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b1\u03c0\u03cc 600 \u03be\u03b5\u03c7\u03c9\u03c1\u03b9\u03c3\u03c4\u03ad\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bc\u03c0\u03bb\u03ad\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2. \u00a0\u039b\u03cc\u03b3\u03c9 \u03c4\u03b7\u03c2 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03bf\u03c7\u03ae\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ce\u03bd \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03ce\u03bd \u03b1\u03b4\u03ad\u03bd\u03c9\u03bd, \u03c4\u03bf CNC \u03b5\u03bc\u03c0\u03b9\u03b5\u03c1\u03b9\u03ad\u03c7\u03b5\u03b9 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5 \u03ac\u03bb\u03bb\u03b5\u03c2 \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03ad\u03c2 \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03b5\u03af\u03c2 \u03bd\u03b5\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b5\u03c2, \u03cc\u03c0\u03c9\u03c2 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf McCune Albright, \u03c4\u03b7\u03bd \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03ae \u03b5\u03bd\u03b4\u03bf\u03ba\u03c1\u03b9\u03bd\u03ae \u03bd\u03b5\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03c4\u03cd\u03c0\u03bf\u03c5 1 \u03ba\u03b1\u03b92 (MEN1 \u03ba\u03b1\u03b9 MEN2, \u03b1\u03bd\u03c4\u03b9\u03c3\u03c4\u03bf\u03af\u03c7\u03c9\u03c2) \u03ba\u03b1\u03b9 \u03bb\u03cc\u03b3\u03c9 \u03c4\u03c9\u03bd \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03c9\u03bd, \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03b6\u03b5\u03b9 \u03bf\u03bc\u03bf\u03b9\u03cc\u03c4\u03b7\u03c4\u03b5\u03c2 \u03bc\u03b5 \u03c4\u03bf PJS.<\/p>\n

\u0391\u03c1\u03c7\u03b9\u03ba\u03ac, \u03c4\u03bf 1996 \u03bc\u03b9\u03b1 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03c3\u03cd\u03bd\u03b4\u03b5\u03c3\u03b7\u03c2 (genetic linkage study), \u03c0\u03c1\u03bf\u03c3\u03b4\u03b9\u03cc\u03c1\u03b9\u03c3\u03b5 \u03c9\u03c2 \u00a0\u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03c4\u03cc\u03c0\u03bf (locus) \u03b3\u03b9\u03b1 \u03c4\u03bf CNC \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 2p16 (\u03b1\u03c1\u03b3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03c9\u03c2 CNC2 locus), \u03ba\u03bf\u03bd\u03c4\u03ac \u03c3\u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c0\u03bf\u03c5 \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03bf POMC (proopiomelanocortin)16<\/sup>. To 2000, \u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03b8\u03b7\u03ba\u03b1\u03bd \u03bf\u03b9 \u03c0\u03c1\u03ce\u03c4\u03b5\u03c2 \u03b2\u03bb\u03b1\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 (germline) \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 17q22-24 (\u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03c9\u03c2 CNC1 locus) \u03c0\u03bf\u03c5 \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03b7 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae \u03c5\u03c0\u03bf-\u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03cd\u03c0\u03bf\u03c5 1-\u03b1 \u03c4\u03b7\u03c2\u00a0 cAMP, \u03c4\u03b7\u03c2 \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03b7\u03bc\u03ad\u03bd\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u03ca\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b9\u03bd\u03ac\u03c3\u03b7\u03c2 \u0391 (\u03a1\u039a \u0391)17<\/sup>. \u03a3\u03ae\u03bc\u03b5\u03c1\u03b1, \u03b3\u03bd\u03c9\u03c1\u03af\u03b6\u03bf\u03c5\u03bc\u03b5 \u03cc\u03c4\u03b9 \u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03c5\u03c0\u03b5\u03cd\u03b8\u03c5\u03bd\u03bf \u03b3\u03b9\u03b1 \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b1\u03c0\u03cc \u03c4\u03bf 70% \u03c4\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd \u03c3\u03c4\u03bf\u03c5\u03c2\u00a0 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u00a0\u03bc\u03b5 CNC.<\/p>\n

\u0397 \u03a1\u039a\u0391 \u03b5\u03af\u03bd\u03b1\u03b9 \u03bf \u03ba\u03cd\u03c1\u03b9\u03bf\u03c2 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03ae\u03c2 \u03c4\u03c9\u03bd cAMP \u03b5\u03c0\u03b9\u03b4\u03c1\u03ac\u03c3\u03b5\u03c9\u03bd \u03c3\u03c4\u03b1 \u03b5\u03c5\u03ba\u03b1\u03c1\u03c5\u03c9\u03c4\u03b9\u03ba\u03ac \u03ba\u03cd\u03c4\u03c4\u03b1\u03c1\u03b1. \u03a3\u03c4\u03b7\u03bd \u03b1\u03bd\u03b5\u03bd\u03b5\u03c1\u03b3\u03ae\u03c2 \u03c4\u03b7\u03c2 \u03bc\u03bf\u03c1\u03c6\u03ae, \u03b7 \u03a1\u039a\u0391 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ad\u03bd\u03b1\u03c2 \u03c4\u03b5\u03c4\u03c1\u03b1\u03bc\u03b5\u03c1\u03ad\u03c2 \u03c0\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b1\u03b8\u03c1\u03bf\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03b4\u03c5\u03bf \u03b4\u03b9\u03bc\u03b5\u03c1\u03ae \u2013 \u03b4\u03c5\u03bf \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b4\u03c5\u03bf \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd (\u03b5\u03b9\u03bd\u03ba\u03cc\u03bd\u03b1 2)18,19<\/sup>. \u039f\u03b9 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03b9\u03bd\u03ac\u03c3\u03b5\u03b9\u03c2\u00a0 \u03c3\u03b5\u03c1\u03af\u03bd\u03b7\u03c2-\u03b8\u03c1\u03b5\u03bf\u03bd\u03af\u03bd\u03b7\u03c2, \u03b5\u03bd\u03ce \u03bf\u03b9 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2 \u03ba\u03b1\u03b8\u03bf\u03c1\u03af\u03b6\u03bf\u03c5\u03bd \u03c4\u03bf \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc \u03bc\u03b5 \u03c4\u03bf\u03bd \u03bf\u03c0\u03bf\u03af\u03bf, \u03b7 cAMP \u03bc\u03b5\u03c4\u03b1\u03c6\u03c1\u03ac\u03b6\u03b5\u03b9 \u03c4\u03bf \u03b5\u03be\u03c9\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03cc \u03c3\u03ae\u03bc\u03b1 \u03c3\u03b5 \u03b2\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03ad\u03ba\u03c6\u03c1\u03b1\u03c3\u03b720<\/sup>. \u0393\u03b9\u03b1 \u03bd\u03b1 \u03c0\u03c1\u03bf\u03c3\u03b4\u03b5\u03b8\u03bf\u03cd\u03bd \u03c3\u03c4\u03b9\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2, \u03bf\u03b9 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03cc\u03ba\u03b5\u03b9\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03c0\u03bb\u03ae\u03c1\u03b7 \u03b4\u03b9\u03b1\u03bc\u03bf\u03c1\u03c6\u03c9\u03c4\u03b9\u03ba\u03ae \u03b1\u03bb\u03bb\u03b1\u03b3\u03ae, \u03ba\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03bf\u03c0\u03bf\u03af\u03b1 \u03b4\u03c5\u03bf cAMP- \u03c0\u03c1\u03bf\u03c3\u03b4\u03b5\u03c4\u03b9\u03bao\u03af \u03c4\u03cc\u03c0\u03bf\u03b9 (domain), \u03b4\u03b9\u03b1\u03c7\u03c9\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03ba\u03b1\u03b9 \u03c0\u03b5\u03c1\u03b9\u03c4\u03c5\u03bb\u03af\u03c3\u03c3\u03bf\u03bd\u03b1\u03c4\u03b9 \u03b3\u03cd\u03c1\u03c9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ae \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b120<\/sup> (\u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 2).<\/p>\n

\n

\"3.14image2\"<\/p>\n

\u00a0<\/b><\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 2.<\/b> cAMP \u2013 \u03b5\u03be\u03b1\u03c1\u03c4\u03ce\u03bc\u03b5\u03bd\u03b7 \u03c0\u03c1\u03c9\u03c4\u03b5\u03ca\u03bd\u03b9\u03ba\u03ae \u03ba\u03b9\u03bd\u03ac\u03c3\u03b7 \u0391 (\u03a1\u039a\u0391). \u0391\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03b4\u03c5\u03bf \u03b4\u03b9\u03bc\u03b5\u03c1\u03ae \u2013 \u03b4\u03c5\u03bf \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd (R<\/b> – regulatory subunits) \u03ba\u03b1\u03b9 \u03b4\u03c5\u03bf \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd (C<\/b> <\/b>– catalytic subunits).<\/p>\n

\n

\u039c\u03b5 \u03c4\u03b7\u03bd \u03b1\u03cd\u03be\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b5\u03bd\u03b4\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03bf\u03cd cAMP, \u03b4\u03c5\u03bf \u03bc\u03cc\u03c1\u03b9\u03b1 cAMP \u03c0\u03c1\u03bf\u03c3\u03b4\u03ad\u03bd\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03ba\u03ac\u03b8\u03b5 \u03bc\u03b9\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b9\u03c2 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2, \u03bf\u03b4\u03b7\u03b3\u03ce\u03bd\u03c4\u03b1\u03c2 \u03c3\u03b5 \u03b1\u03c0\u03bf\u03c3\u03c5\u03bd\u03b1\u03c1\u03bc\u03bf\u03bb\u03cc\u03b3\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03c4\u03b5\u03c4\u03c1\u03b1\u03bc\u03b5\u03c1\u03bf\u03cd\u03c2 \u03c3\u03c4\u03b1 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03b4\u03b9\u03bc\u03b5\u03c1\u03ae \u03ba\u03b1\u03b9 \u03c4\u03b9\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2. \u039f\u03b9 \u03b5\u03bb\u03b5\u03cd\u03b8\u03b5\u03c1\u03b5\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2 \u03ba\u03b1\u03c4\u03cc\u03c0\u03b9\u03bd \u03c6\u03c9\u03c3\u03c6\u03bf\u03c1\u03c5\u03bb\u03af\u03bf\u03c5\u03bd \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd\u03c2 \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03bf\u03cd\u03c2 \u03c3\u03c4\u03cc\u03c7\u03bf\u03c5\u03c2, \u03c1\u03c5\u03b8\u03bc\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03c2 \u03c4\u03b7 \u03bc\u03b5\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03c9\u03bd \u03c0\u03bf\u03c5 \u03bc\u03b5\u03c3\u03bf\u03bb\u03b1\u03b2\u03bf\u03cd\u03bd \u03c3\u03c4\u03b7\u03bd \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03ae \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7, \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03b1\u03c3\u03b9\u03b1\u03c3\u03bc\u03cc \u03ba\u03b1\u03b9 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b721,22<\/sup>.<\/p>\n

\u03a9\u03c2\u00a0 \u03c4\u03ce\u03c1\u03b1, \u03c4\u03ad\u03c3\u03c3\u03b5\u03c1\u03b9\u03c2 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2: R\u0399\u03b1,\u00a0 RI\u03b2, RII\u03b1 \u03ba\u03b1\u03b9 RII\u03b2 \u03ba\u03b1\u03b9 \u03c4\u03ad\u03c3\u03c3\u03b5\u03c1\u03b9\u03c2 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2 (C\u03b1, C\u03b2, C \u03b3 \u03ba\u03b1\u03b9 PRKX) \u03ad\u03c7\u03bf\u03c5\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03c3\u03c4\u03bf \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03b9\u03bd\u03bf \u03b5\u03af\u03b4\u03bf\u03c2 (\u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 2). \u0391\u03c0\u03cc \u03cc\u03bb\u03b5\u03c2 \u03c4\u03b9\u03c2 \u03a1\u039a\u0391 \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03b5\u03c2, \u03b7 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03bc\u03cc\u03bd\u03b7, \u03c3\u03c4\u03b7\u03bd \u03bf\u03c0\u03bf\u03af\u03b1 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03cc\u03c4\u03b9 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03bf\u03cd\u03bd \u03bd\u03cc\u03c3\u03bf \u03c3\u03c4\u03bf \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03b9\u03bd\u03bf \u03b5\u03af\u03b4\u03bf\u03c223<\/sup>.<\/p>\n

\u03a4\u03bf <\/i>PRKAR<\/i>1<\/i>A<\/i> \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03b2\u03c1\u03af\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 17q22-24 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc 11 \u03b5\u03be\u03cc\u03bd\u03b9\u03b1, 10 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03bf\u03c0\u03bf\u03af\u03b1 (2-11) \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03bf\u03cd\u03bd. \u039c\u03b5\u03c4\u03ac \u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03b3\u03bd\u03ce\u03c1\u03b9\u03c3\u03b7 \u03c4\u03bf\u03c5 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03c9\u03c2 \u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c0\u03bf\u03c5 \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03b5\u03af \u03c4\u03bf CNC, \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b1\u03c0\u03cc 120 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b1\u03b9\u03c4\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af. \u039f\u03b9 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf CNC \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03bf\u03c5\u03bd \u03b1\u03bd\u03c4\u03b9\u03ba\u03b1\u03c4\u03ac\u03c3\u03c4\u03b1\u03c3\u03b7 \u03bc\u03b9\u03b1 \u03b2\u03ac\u03c3\u03b7\u03c2, \u03bc\u03b9\u03ba\u03c1\u03ad\u03c2 \u03b5\u03bb\u03bb\u03b5\u03af\u03c8\u03b5\u03b9\u03c2 (deletions) \u00a0\u03bc\u03ad\u03c7\u03c1\u03b9 15 bp \u03ae \u03c3\u03c5\u03bd\u03b4\u03c5\u03b1\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03b1\u03bd\u03b1\u03ba\u03b1\u03c4\u03b1\u03c4\u03ac\u03be\u03b5\u03b9\u03c2 (combined rearrangements) \u03ba\u03b1\u03c4\u03ac \u03bc\u03ae\u03ba\u03bf\u03c2 \u03bf\u03bb\u03cc\u03ba\u03bb\u03b7\u03c1\u03bf\u03c5 \u03c4\u03bf\u03c5 \u03b1\u03bd\u03bf\u03b9\u03ba\u03c4\u03bf\u03cd \u03c0\u03bb\u03b1\u03b9\u03c3\u03af\u03bf\u03c5 \u03b1\u03bd\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c2 (open reading frame, OPF) \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c524<\/sup>.<\/p>\n

\u039f \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc\u03c2 \u03bc\u03b5 \u03c4\u03bf\u03bd \u03bf\u03c0\u03bf\u03af\u03bf \u03bf\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf\u00a0 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03c4\u03bf CNC \u03bf\u03c6\u03b5\u03af\u03bb\u03b5\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03bc\u03b7 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03c3\u03bc\u03b1\u03c4\u03b9\u03ba\u03cc \u03b5\u03bb\u03ad\u03b3\u03c7\u03bf \u03c4\u03c9\u03bd \u03a1\u039a\u0391 \u03ba\u03b1\u03c4\u03b1\u03bb\u03c5\u03c4\u03b9\u03ba\u03ce\u03bd \u03c5\u03c0\u03bf\u03bc\u03bf\u03bd\u03ac\u03b4\u03c9\u03bd, \u03b5\u03af\u03c4\u03b5\u00a0 \u03bb\u03cc\u03b3\u03c9 \u03b1\u03c0\u03bb\u03bf\u03b1\u03bd\u03b5\u03c0\u03ac\u03c1\u03ba\u03b5\u03b9\u03b1\u03c2, \u03b5\u03af\u03c4\u03b5 \u03bb\u03cc\u03b3\u03c9 \u03c0\u03b1\u03c1\u03b1\u03b3\u03c9\u03b3\u03ae\u03c2 \u03b5\u03bb\u03b1\u03c4\u03c4\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2. \u039f \u03bc\u03b5\u03b3\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03bf\u03c2 \u03b1\u03c1\u03b9\u03b8\u03bc\u03cc\u03c2 \u03c4\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd \u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03b1\u03c0\u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03b7\u03c4\u03b9\u03ba\u03ad\u03c2 – \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03c4\u03b7 \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c0\u03c1\u03cc\u03c9\u03c1\u03bf\u03c5 \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03bd\u03af\u03bf\u03c5 \u03bb\u03ae\u03be\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03b1\u03ba\u03cc\u03bb\u03bf\u03c5\u03b8\u03b7 \u03b4\u03b9\u03ac\u03c3\u03c0\u03b1\u03c3\u03b7 (degradation)\u00a0 \u03c4\u03bf\u03c5 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03b1\u03b3\u03bc\u03ad\u03bd\u03bf\u03c5 mRNA, \u03b1\u03c0\u03cc \u03b1\u03bd\u03b5\u03c1\u03bc\u03b7\u03bd\u03b5\u03cd\u03c3\u03b9\u03bc\u03b7 \u03ba\u03b1\u03b8\u03bf\u03c1\u03b9\u03b6\u03cc\u03bc\u03b5\u03bd\u03b7 \u03c6\u03b8\u03bf\u03c1\u03ac \u03c4\u03bf\u03c5 mRNA (nonsense mediated mRNA decay)25,26<\/sup>. O\u03c6\u03b5\u03af\u03bb\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03b1\u03bd\u03b5\u03c1\u03bc\u03b7\u03bd\u03b5\u03cd\u03c3\u03b9\u03bc\u03b5\u03c2 \u03b1\u03bd\u03c4\u03b9\u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03ac\u03c3\u03b5\u03b9\u03c2 (nonsense substitutions), \u03bc\u03b9\u03ba\u03c1\u03ad\u03c2 \u03b5\u03bd\u03b8\u03ad\u03c3\u03b5\u03b9\u03c2 \u03ba\u03b1\u03b9 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 (small insertions and deletions: INDELs) \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03b5 \u03bc\u03b5\u03c4\u03b1\u03c4\u03cc\u03c0\u03b9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b1\u03bd\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03bf\u03cd \u03c0\u03bb\u03b1\u03b9\u03c3\u03af\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ad\u03c2 \u03b4\u03b9\u03ac\u03c3\u03c0\u03b1\u03c3\u03b7\u03c2 (splice variants), \u03cc\u03bb\u03b5\u03c2 \u03b5\u03bd\u03c4\u03bf\u03c0\u03b9\u03b6\u03cc\u03bc\u03b5\u03bd\u03b5\u03c2 \u03c3\u03c4\u03bf\u03bd \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03bf \u03b5\u03be\u03ce\u03bd\u03b9\u03bf \u03c4\u03bf\u03c5 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf\u03c525<\/sup>. O\u03b9 \u00a0\u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03b9 \u00a0\u03c0\u03bf\u03c5 \u03bf\u03c6\u03b5\u03af\u03bb\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03c0\u03c1\u03cc\u03c9\u03c1\u03b1 \u03ba\u03c9\u03b4\u03b9\u03ba\u03cc\u03bd\u03b9\u03b1 \u03bb\u03ae\u03be\u03b7\u03c2, \u03c0\u03bf\u03b9\u03ba\u03af\u03bb\u03bf\u03c5\u03bd \u03c3\u03c4\u03b9\u03c2 \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03b9\u03c2 \u03c4\u03bf\u03c5\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b7 \u03b4\u03c1\u03b9\u03bc\u03cd\u03c4\u03b7\u03c4\u03ac \u03c4\u03b7\u03c2 \u03c4\u03bf\u03c5 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ac.<\/p>\n

\u0386\u03bb\u03bb\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2, \u03b5\u03af\u03bd\u03b1\u03b9 \u03b1\u03c5\u03c4\u03ad\u03c2 \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd\u00a0 \u03c3\u03b5 \u03b5\u03c0\u03b9\u03bc\u03ae\u03ba\u03c5\u03bd\u03c3\u03b7 \u03c4\u03b7\u03c2 RI\u03b1 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2 – \u03c4\u03ad\u03c3\u03c3\u03b5\u03c1\u03b9\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c9\u03c2 \u03c4\u03ce\u03c1\u03b1 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af, \u03cc\u03bb\u03b5\u03c2 \u03b5\u03bd\u03c4\u03bf\u03c0\u03b9\u03b6\u03cc\u03bc\u03b5\u03bd\u03b5\u03c2 \u03c3\u03c4\u03bf \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03bf \u03b5\u03be\u03ce\u03bd\u03b9\u03bf \u03c4\u03bf\u03c5 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03c5\u03c1\u03af\u03c9\u03c2 \u03bc\u03b9\u03ba\u03c1\u03ad\u03c2 INDELs \u03c0\u03bf\u03c5 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd \u03c3\u03b5 \u03b1\u03bd\u03b1\u03b4\u03b9\u03ac\u03c4\u03b1\u03be\u03b7 \u03c4\u03bf\u03c5 \u03b1\u03bd\u03bf\u03b9\u03ba\u03c4\u03bf\u03cd \u03c0\u03bb\u03b1\u03b9\u03c3\u03af\u03bf\u03c5 \u03b1\u03bd\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c227<\/sup>.<\/p>\n

\u0388\u03bd\u03b1\u03c2 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03cc\u03c2 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c2 \u03b1\u03c1\u03b9\u03b8\u03bc\u03cc\u03c2 \u03c4\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd\u00a0 \u03c3\u03c4\u03bf\u00a0 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03ad\u03bb\u03b5\u03c3\u03bc\u03b1 \u03ad\u03ba\u03c6\u03c1\u03b1\u03c3\u03b7\u03c2 \u03b1\u03bb\u03bb\u03bf\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7\u03c2 (altered) \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2, \u03bb\u03cc\u03b3\u03c9 \u03c0\u03b1\u03c1\u03b5\u03c1\u03bc\u03b7\u03bd\u03b5\u03cd\u03c3\u03b9\u03bc\u03c9\u03bd \u03b1\u03bd\u03c4\u03b9\u03ba\u03b1\u03c4\u03ac\u03c3\u03c4\u03b1\u03c3\u03b5\u03c9\u03bd (missense substitutions), \u03b2\u03c1\u03b1\u03c7\u03ad\u03c9\u03bd\u00a0 INDELs \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ad\u03c2 \u03b4\u03b9\u03ac\u03c3\u03c0\u03b1\u03c3\u03b7\u03c2.<\/p>\n

M\u03b5\u03b3\u03ac\u03bb\u03b5\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03c3\u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae \u03c4\u03bf\u03c5 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5 (17q24.2-q24.3) \u03ad\u03c7\u03bf\u03c5\u03bd \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af, \u03c3\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 CNC, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03bf\u03b9 \u03ae\u03c4\u03b1\u03bd \u03b1\u03c1\u03bd\u03b7\u03c4\u03b9\u03ba\u03bf\u03af \u03b3\u03b9\u03b1 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf PRKAR1A <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c3\u03c4\u03b7\u03bd \u03b5\u03bd\u03b6\u03c5\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae \u03bc\u03ad\u03b8\u03bf\u03b4\u03bf \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03c5\u03c7\u03af\u03b1\u03c2\u00a0 Sanger. \u00a0\u0391\u03c5\u03c4\u03ad\u03c2 \u03bf\u03b9 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03b5\u03bc\u03c6\u03ac\u03bd\u03b9\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1\u03c2 \u03c3\u03b5 \u03bd\u03b5\u03cc\u03c4\u03b5\u03c1\u03b7 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1, \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03ba\u03b1\u03b9 \u00a0\u03c3\u03ba\u03b5\u03bb\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b5\u03c228<\/sup>.\u00a0 \u0397 \u03c4\u03b5\u03c7\u03bd\u03bf\u03bb\u03bf\u03b3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03b3\u03ba\u03c1\u03b9\u03c4\u03b9\u03ba\u03bf\u03cd \u03b3\u03b5\u03bd\u03bf\u03bc\u03b9\u03ba\u03bf\u03cd \u03c5\u03b2\u03c1\u03b9\u03b4\u03b9\u03c3\u03bc\u03bf\u03cd (array Comparative Genomic Hybridization – aCGH) \u03ad\u03c7\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c1\u03cc\u03bb\u03bf \u03c3\u03c4\u03bf\u03bd \u03ba\u03b1\u03b8\u03bf\u03c1\u03b9\u03c3\u03bc\u03cc \u03b1\u03c5\u03c4\u03ce\u03bd \u03c4\u03c9\u03bd \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ce\u03bd28<\/sup>.<\/p>\n

\u039c\u03b5\u03c4\u03ac \u03c4\u03b7\u03bd \u03c0\u03c1\u03ce\u03c4\u03b7 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03ae \u03c4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5, \u03ad\u03bd\u03b1\u03c2 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c2 \u03b1\u03c1\u03b9\u03b8\u03bc\u03cc\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 CNC \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03b5\u03b8\u03bd\u03b9\u03ba\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2 \u03ba\u03b1\u03b9 \u03bc\u03b5 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ad\u03c2 \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03b9\u03c2 \u00a0\u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03bd\u03b1\u03c6\u03b5\u03c1\u03b8\u03b5\u03af23<\/sup>. \u03a4\u03b1 \u03c0\u03b9\u03bf \u03c0\u03c1\u03cc\u03c3\u03c6\u03b1\u03c4\u03b1 \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ac \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03bf CNC \u03b5\u03bc\u03c0\u03b5\u03c1\u03b9\u03ad\u03c7\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf\u03bd \u03c0\u03b1\u03c1\u03b1\u03ba\u03ac\u03c4\u03c9 \u03c0\u03af\u03bd\u03b1\u03ba\u03b1 (\u03c0\u03af\u03bd\u03b1\u03ba\u03b1 1):<\/p>\n

\u03a0\u03af\u03bd\u03b1\u03ba\u03b1\u03c2 1. <\/b>\u0394\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ac \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1 \u03b3\u03b9\u03b1 \u03c4\u03bf CNC.<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
\u039c\u03b5\u03af\u03b6\u03bf\u03bd\u03c4\u03b1 \u0394\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ac \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1<\/b><\/b><\/span><\/td>\n<\/tr>\n
1.<\/td>\n\u039a\u03b7\u03bb\u03b9\u03b4\u03ce\u03b4\u03b7 \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03bc\u03b5 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03bd\u03bf\u03bc\u03ae\u00a0 (\u03c7\u03b5\u03af\u03bb\u03b7, \u03b5\u03c0\u03b9\u03c0\u03b5\u03c6\u03c5\u03ba\u03cc\u03c4\u03b1, \u03ad\u03c3\u03c9 \u03ba\u03b1\u03b9 \u03ad\u03be\u03c9 \u03ba\u03b1\u03bd\u03b8\u03bf\u03cd\u03c2, \u03ba\u03bf\u03bb\u03c0\u03b9\u03ba\u03cc \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bdo \u03ba\u03b1\u03b9 \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf \u03c4\u03bf\u03c5\u03c2 \u03c0\u03ad\u03bf\u03c5\u03c2) (\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 3)<\/td>\n<\/tr>\n
2.<\/td>\n\u039c\u03cd\u03be\u03c9\u03bc\u03b1 (\u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03cc \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf\u03c5\u03c2)<\/td>\n<\/tr>\n
3.<\/td>\n\u039c\u03cd\u03be\u03c9\u03bc\u03b1 \u03c3\u03c4\u03b7\u03bd \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac<\/td>\n<\/tr>\n
4.<\/td>\n\u039c\u03c5\u03be\u03c9\u03bc\u03ac\u03c4\u03bf\u03c3\u03b7 \u03c3\u03c4\u03bf \u03c3\u03c4\u03ae\u03b8\u03bf\u03c2<\/td>\n<\/tr>\n
5.<\/td>\n\u03a0\u03c1\u03c9\u03c4\u03bf\u03c0\u03b1\u03b8\u03ae \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b7 \u03bf\u03b6\u03ce\u03b4\u03b7 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd (PPNAD) \u03ae \u03c0\u03b1\u03c1\u03ac\u03b4\u03bf\u03be\u03b1 \u03b8\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03c4\u03b1\u03c0\u03cc\u03ba\u03c1\u03b9\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b3\u03bb\u03c5\u03ba\u03bf\u03c1\u03c4\u03b9\u03ba\u03bf\u03c3\u03c4\u03b5\u03c1\u03bf\u03b5\u03b9\u03b4\u03ce\u03bd \u03c3\u03c4\u03b1 \u03bf\u03cd\u03c1\u03b1, \u00a0\u03ba\u03b1\u03c4\u03ac \u03c4\u03b7 \u03c7\u03bf\u03c1\u03ae\u03b3\u03b7\u03c3\u03b7 \u03b4\u03b5\u03be\u03b1\u03bc\u03b5\u03b8\u03b1\u03b6\u03cc\u03bd\u03b7\u03c2 (Liddle \u03c4\u03b5\u03c3\u03c4)<\/td>\n<\/tr>\n
6.<\/td>\n\u0393\u03b9\u03b3\u03b1\u03bd\u03c4\u03b9\u03c3\u03bc\u03cc\u03c2 \u03ae \u03b1\u03ba\u03c1\u03bf\u03bc\u03b5\u03b3\u03b1\u03bb\u03af\u03b1 \u2013 \u03b5\u03be\u03b1\u03b9\u03c4\u03af\u03b1\u03c2 \u03c5\u03c0\u03bf\u03c6\u03c5\u03c3\u03b9\u03b1\u03ba\u03bf\u03cd \u03b1\u03b4\u03b5\u03bd\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ae \u03c5\u03c0\u03b5\u03c1\u03c0\u03bb\u03b1\u03c3\u03af\u03b1\u03c2 \u03c0\u03bf\u03c5 \u03c0\u03b1\u03c1\u03ac\u03b3\u03b5\u03b9 \u03b1\u03c5\u03be\u03b7\u03c4\u03b9\u03ba\u03ae \u03bf\u03c1\u03bc\u03cc\u03bd\u03b7<\/td>\n<\/tr>\n
7.<\/td>\n\u039c\u03b1\u03ba\u03c1\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03bao\u03bf\u03af \u03b1\u03c0\u03bf\u03c4\u03b9\u03c4\u03b1\u03bd\u03c9\u03bc\u03ad\u03bd\u03bf\u03b9 \u03cc\u03b3\u03ba\u03bf\u03b9 \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd Sertoli (Large cell calcifying Sertoli Cell Tumors \u2013 LCCSCT) \u03ae \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b1\u03c0\u03bf\u03c4\u03b9\u03c4\u03b1\u03bd\u03ce\u03c3\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf\u03bd \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03c4\u03c9\u03bd \u03cc\u03c1\u03c7\u03b5\u03c9\u03bd<\/td>\n<\/tr>\n
8.<\/td>\n\u039a\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03b8\u03c5\u03c1\u03bf\u03b5\u03b9\u03b4\u03bf\u03cd\u03c2 \u03ae \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03bf\u03cd\u03c2 \u03c5\u03c0\u03bf\u03b5\u03c7\u03bf\u03b3\u03b5\u03bd\u03b5\u03af\u03c2 (\u03c8\u03c5\u03c7\u03c1\u03bf\u03cd\u03c2) \u03cc\u03b6\u03bf\u03c5\u03c2 \u03c3\u03c4\u03bf\u03bd \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03c4\u03bf\u03c5 \u03b8\u03c5\u03c1\u03bf\u03b5\u03b9\u03b4\u03bf\u03cd\u03c2 \u03b1\u03b4\u03ad\u03bd\u03bf\u03c2, \u03c3\u03b5 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03bd\u03ad\u03bf\u03c5\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2<\/td>\n<\/tr>\n
9.<\/td>\n\u039c\u03b5\u03bb\u03b1\u03bd\u03c9\u03c4\u03b9\u03ba\u03ac \u03c3\u03b2\u03b1\u03bd\u03ce\u03bc\u03b1\u03c4\u03b1 – psammomatous melanotic schwannoma<\/td>\n<\/tr>\n
10.<\/td>\n\u039c\u03c0\u03bb\u03b5 \u03c3\u03c0\u03af\u03bb\u03bf\u03b9 \u00a0(\u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03bf\u03af)<\/td>\n<\/tr>\n
11.<\/td>\n\u0391\u03b4\u03ad\u03bd\u03c9\u03bc\u03b1 \u03c4\u03c9\u03bd \u03c0\u03cc\u03c1\u03c9\u03bd (ductal adenoma) \u03c3\u03c4\u03bf \u03c3\u03c4\u03ae\u03b8\u03bf\u03c2 (\u03c3\u03c5\u03bd\u03ae\u03b8\u03c9\u03c2 \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03cc)<\/td>\n<\/tr>\n
12.<\/td>\n\u039f\u03c3\u03c4\u03b5\u03bf\u03c7\u03bf\u03bd\u03b4\u03c1\u03bf\u03bc\u03cd\u03be\u03c9\u03bc\u03b1<\/td>\n<\/tr>\n
\u03a3\u03c5\u03bc\u03c0\u03bb\u03b7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1<\/b><\/span><\/td>\n<\/tr>\n
1.<\/td>\n\u03a0\u03c1\u03ce\u03c4\u03bf\u03c5 \u03b2\u03b1\u03b8\u03bc\u03bf\u03cd \u03c3\u03c5\u03b3\u03b3\u03b5\u03bd\u03b5\u03af\u03c2 \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03bc\u03ad\u03bd\u03bf\u03b9 \u03bc\u03b5 \u03c4\u03b7 \u03bd\u03cc\u03c3\u03bf<\/td>\n<\/tr>\n
2.<\/td>\n\u0391\u03c0\u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03bc\u03ad\u03bd\u03b7 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7 \u00a0<\/i>\u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u00a0<\/b><\/p>\n

\n

\"3.14image3\"<\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 3.<\/b> \u039a\u03b7\u03bb\u03b9\u03b4\u03ce\u03b4\u03b7 \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03c4\u03b1 \u03cc\u03c1\u03b9\u03b1 \u03c7\u03b5\u03b9\u03bb\u03ad\u03c9\u03bd – \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03ad\u03c3\u03c9 \u03ba\u03b1\u03bd\u03b8\u03bf\u03cd\u03c2<\/p>\n

\n

\u0393\u03b9\u03b1 \u03bd\u03b1 \u03c4\u03b5\u03b8\u03b5\u03af \u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 CNC, \u03b5\u03af\u03bd\u03b1\u03b9 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03b4\u03c5\u03bf \u03ae \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03bc\u03b5\u03af\u03b6\u03bf\u03bd\u03c4\u03b1 \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03ac \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1. \u039f\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u00a0<\/i>\u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03bc\u03b5\u03c4\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd\u03c4\u03b1\u03b9 \u03ba\u03b1\u03c4\u03ac \u03c4\u03bf \u03b1\u03c5\u03c4\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03cc \u03b5\u03c0\u03b9\u03ba\u03c1\u03b1\u03c4\u03ce\u03bd\u03c4\u03b1 \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc. \u0399\u03b4\u03b9\u03b1\u03b9\u03c4\u03ad\u03c1\u03c9\u03c2, \u03c3\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 CNC \u03c0\u03bf\u03c5 \u03bc\u03b5\u03bb\u03b5\u03c4\u03ae\u03b8\u03b7\u03ba\u03b1\u03bd \u03bc\u03b5 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Cushing, 70 – 80% \u03b1\u03c5\u03c4\u03ce\u03bd \u03b5\u03af\u03c7\u03b1\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf. \u0391\u03bd\u03ac\u03bc\u03b5\u03c3\u03b1 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03c6\u03bf\u03c1\u03b5\u03af\u03c2 \u03c4\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd, \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Cushing \u03bb\u03cc\u03b3\u03c9 \u03c0\u03c1\u03c9\u03c4\u03bf\u03c0\u03b1\u03b8\u03ae\u03c2 \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b7\u03c2 \u03bf\u03b6\u03ce\u03b4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5 \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd (PPNAD) \u03c3\u03c5\u03bd\u03b1\u03bd\u03c4\u03ac\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf 70% \u03c4\u03c9\u03bd \u03b3\u03c5\u03bd\u03b1\u03b9\u03ba\u03ce\u03bd \u03bc\u03b5 CNC \u03c0\u03c1\u03b9\u03bd \u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03c4\u03c9\u03bd 45 \u03b5\u03c4\u03ce\u03bd, \u03b1\u03bb\u03bb\u03ac \u03bc\u03cc\u03bd\u03bf \u03c3\u03c4\u03bf 45% \u03c4\u03c9\u03bd \u03b1\u03bd\u03b4\u03c1\u03ce\u03bd \u03bc\u03b5 CNC, \u03c0\u03b9\u03b8\u03b1\u03bd\u03ce\u03c2 \u03b1\u03bd\u03c4\u03b1\u03bd\u03b1\u03ba\u03bb\u03ce\u03bd\u03c4\u03b1\u03c2\u00a0 \u03c4\u03b7\u03bd \u03c5\u03c8\u03b7\u03bb\u03cc\u03c4\u03b5\u03c1\u03b7 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Cushing \u03c3\u03c4\u03bf \u00a0\u03b3\u03c5\u03bd\u03b1\u03b9\u03ba\u03b5\u03af\u03bf \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03cc29<\/sup>.\u00a0 \u0391\u03c5\u03c4\u03ac \u03c4\u03b1 \u03c0\u03bf\u03c3\u03bf\u03c3\u03c4\u03ac \u03b4\u03b5\u03bd \u03c5\u03c0\u03bf\u03b4\u03b7\u03bb\u03ce\u03bd\u03bf\u03c5\u03bd \u03c4\u03b7\u03bd \u03b1\u03ba\u03c1\u03b9\u03b2\u03ae \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 PPNAD, \u03ba\u03b1\u03b8\u2019\u03cc\u03c4\u03b9 \u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b1\u03b8\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c3\u03c4\u03b1 \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03af\u03b4\u03b9\u03b1\u00a0 \u03b1\u03c0\u03b1\u03bd\u03c4\u03ac\u03c4\u03b1\u03b9 \u03c3\u03c7\u03b5\u03b4\u03cc\u03bd \u03c3\u03c4\u03bf 100% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 CNC, \u03c3\u03c4\u03bf\u03c5\u03c2 \u03bf\u03c0\u03bf\u03af\u03bf\u03c5\u03c2 \u03ad\u03b3\u03b9\u03bd\u03b5 \u03b1\u03c5\u03c4\u03bf\u03c8\u03af\u03b130<\/sup>.<\/p>\n

\u0397 \u03b4\u03b9\u03b5\u03b9\u03c3\u03b4\u03c5\u03c4\u03b9\u03ba\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03ac\u03bd\u03c9 \u03b1\u03c0\u03cc 95%.\u00a0 \u03a3\u03c5\u03b3\u03ba\u03c1\u03af\u03bd\u03bf\u03bd\u03c4\u03b1\u03c2 \u03c4\u03bf\u03c5\u03c2 \u03c6\u03bf\u03c1\u03b5\u03af\u03c2 \u03c4\u03c9\u03bd PRKAR<\/i>1<\/i>A<\/i> \u03bc\u03b5 \u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd, \u03bc\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd CNC \u03c7\u03c9\u03c1\u03af\u03c2 \u03ba\u03ac\u03c0\u03bf\u03b9\u03b1 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7 \u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf, \u03b7 \u03bd\u03cc\u03c3\u03bf\u03c2 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03b9\u03ac\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c1\u03b3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03c3\u03c4\u03b7 \u03b4\u03b9\u03ac\u03c1\u03ba\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03b6\u03c9\u03ae\u03c2\u00a0 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03c3\u03c5\u03bd\u03ae\u03b8\u03c9\u03c2 \u03c3\u03c0\u03bf\u03c1\u03b1\u03b4\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03af\u03c0\u03c9\u03c3\u03b731<\/sup>.\u00a0 \u039f\u03b9 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2\u00a0 \u03c7\u03c9\u03c1\u03af\u03c2 PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bd \u03bd\u03b1 \u03c4\u03b1\u03be\u03b9\u03bd\u03bf\u03bc\u03b7\u03b8\u03bf\u03cd\u03bd \u03c3\u03b5 \u03c4\u03c1\u03b5\u03b9\u03c2 \u03ba\u03b1\u03c4\u03b7\u03b3\u03bf\u03c1\u03af\u03b5\u03c2: \u03b1) \u00a0\u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03c4\u03c5\u03c0\u03b9\u03ba\u03ad\u03c2 CNC \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03b9\u03c2, \u03b2)\u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u00a0\u03bc\u03b5\u00a0 PPNAD \u03ba\u03b1\u03b9 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03ba\u03b1\u03b9 \u03b3) \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03bc\u03b5\u03bc\u03bf\u03bd\u03c9\u03bc\u03ad\u03bd\u03b7 \u03bc\u03b9\u03ba\u03c1\u03bf\u03bf\u03b6\u03ce\u03b4\u03b7 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd (isolated Micronodular Adrenocortical Disease \u2013 iMAD).<\/p>\n

\u039c\u03b9\u03b1 \u03b5\u03c5\u03c1\u03b5\u03af\u03b1 \u03ad\u03c1\u03b5\u03c5\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03b9\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 iMAD, \u03bf\u03b4\u03ae\u03b3\u03b7\u03c3\u03b5 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03b3\u03bd\u03ce\u03c1\u03b9\u03c3\u03b7 \u03b1\u03c0\u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03b7\u03c4\u03b9\u03ba\u03ce\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd \u03c3\u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c0\u03bf\u03c5 \u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03b7 \u03c6\u03c9\u03c3\u03c6\u03bf\u03b4\u03b9\u03b5\u03c3\u03c4\u03b5\u03c1\u03ac\u03c3\u03b7 (PDE) 11 A (PDE<\/i>11<\/i>A<\/i>), \u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03ae\u03b8\u03b7\u03ba\u03b5 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03ba\u03ac\u03bb\u03c5\u03c8\u03b7 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd \u03c3\u03b5 \u03ad\u03b1\u03bd \u03ac\u03bb\u03bb\u03bf PDE\u00a0 \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u2013 \u03c4\u03bf\u00a0 PDE<\/i>8\u0392.<\/i>32,33<\/sup> <\/i>\u00a0\u039a\u03b1\u03b9 \u03c4\u03bf PDE11A \u03ba\u03b1\u03b9 \u03c4\u03bf PDE8\u0392 \u03b5\u03af\u03bd\u03b1\u03b9 cAMP \u03ad\u03bd\u03b6\u03c5\u03bc\u03b1 \u03b4\u03b9\u03ac\u03c3\u03c0\u03b1\u03c3\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03b7\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03bf\u03b4\u03b7\u03b3\u03bf\u03cd\u03bd, \u03c3\u03b5 \u03b1\u03cd\u03be\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03bf\u03cd \u03b5\u03c0\u03b9\u03c0\u03ad\u03b4\u03bf\u03c5 \u03c4\u03bf\u03c5 cAMP \u03ba\u03b1\u03b9 \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03a1\u039a\u0391 \u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03cc\u03c4\u03b7\u03c3\u03b7\u03c2, \u03cc\u03c0\u03c9\u03c2 \u03b1\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b1 \u03c3\u03c5\u03bc\u03b2\u03b1\u03af\u03bd\u03b5\u03b9\u00a0 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b9\u03c2 \u03b1\u03c4\u03ad\u03bb\u03b5\u03b9\u03b5\u03c2 (defects) \u03c4\u03bf\u03c5 PRKAR<\/i>1<\/i>A<\/i> \u03c3\u03c4\u03b7\u03bd \u03af\u03b4\u03b9\u03b1 \u03bf\u03b4\u03cc (pathway) \u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03cc\u03c4\u03b7\u03c3\u03b7\u03c2.<\/p>\n

\u039c\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03c0\u03bf\u03c5 \u03c3\u03c5\u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03bf\u03c5\u03bd \u03c4\u03bf \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf \u03bc\u03b5 \u03c4\u03bf \u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 CNC \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03b5\u03c1\u03b9\u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2. \u038c\u03bb\u03b5\u03c2 \u03bf\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03a1\u039a\u0391 \u03c3\u03b7\u03bc\u03b1\u03c4\u03cc\u03b4\u03bf\u03c4\u03b7\u03c3\u03b7, \u03c9\u03c2 \u03c4\u03bf\u03bd \u03ba\u03cd\u03c1\u03b9\u03bf \u03b1\u03af\u03c4\u03b9\u03bf \u03b3\u03b9\u03b1 \u03c4\u03bf \u03c3\u03c7\u03b7\u03bc\u03b1\u03c4\u03b9\u03c3\u03bc\u03cc \u03cc\u03b3\u03ba\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c4\u03b1 \u03ac\u03bb\u03bb\u03b1 \u03c3\u03c5\u03bc\u03c0\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5. \u0395\u03bd\u03c4\u03bf\u03cd\u03c4\u03bf\u03b9\u03c2, \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03c4\u03b1 \u03c4\u03b5\u03bb\u03b5\u03c5\u03c4\u03b1\u03af\u03b1 20 \u03c7\u03c1\u03cc\u03bd\u03b9\u03b1 \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 CNC, \u03ad\u03b4\u03b5\u03b9\u03be\u03b1\u03bd \u03c3\u03c5\u03c3\u03c7\u03ad\u03c4\u03b9\u03c3\u03b7 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ce\u03bd \u03b5\u03ba\u03b4\u03b7\u03bb\u03ce\u03c3\u03b5\u03c9\u03bd \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bc\u03c0\u03bb\u03ad\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2. \u03a3\u03c5\u03b3\u03ba\u03b5\u03bd\u03c4\u03c1\u03c9\u03c4\u03b9\u03ba\u03ac, PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c0\u03b1\u03c1\u03b1\u03c4\u03b7\u03c1\u03ae\u03b8\u03b7\u03ba\u03b1\u03bd \u03c3\u03c4\u03bf 40% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03c0\u03bf\u03c5 \u03c4\u03b1\u03be\u03b9\u03bd\u03bf\u03bc\u03ae\u03b8\u03b7\u03ba\u03b1\u03bd \u03c9\u03c2 \u201c\u03c3\u03c0\u03bf\u03c1\u03b1\u03b4\u03b9\u03ba\u03ad\u03c2\u201d \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2, \u03c3\u03b5 \u03b1\u03bd\u03c4\u03af\u03b8\u03b5\u03c3\u03b7 \u03bc\u03b5 \u03c4\u03bf \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 80% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd, \u03c3\u03c4\u03bf\u03c5\u03c2 \u03bf\u03c0\u03bf\u03af\u03bf\u03c5\u03c2 \u03b2\u03c1\u03ad\u03b8\u03b7\u03ba\u03b5 PRKAR<\/i>1<\/i>A<\/i> \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7. \u039f\u03b9 \u03c5\u03c0\u03bf-\u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03c0\u03bf\u03c5 \u03b5\u03c0\u03ae\u03bb\u03b8\u03b1\u03bd \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03bf\u03c5\u03bd: \u03b1) \u03bc\u03b5\u03bc\u03bf\u03bd\u03c9\u03bc\u03ad\u03bd\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 PPNAD, \u03c3\u03c5\u03bd\u03bf\u03b4\u03b5\u03c5\u03cc\u03bc\u03b5\u03bd\u03b5\u03c2 \u00a0\u03bc\u03b5\u03c1\u03b9\u03ba\u03ad\u03c2\u00a0 \u03c6\u03bf\u03c1\u03ad\u03c2 \u03b1\u03c0\u03cc \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03bc\u03b9\u03ba\u03c1\u03cc\u03c4\u03b5\u03c1\u03b7 \u03c4\u03c9\u03bd 8 \u03b5\u03c4\u03ce\u03bd \u2013\u03c3\u03c0\u03b1\u03bd\u03af\u03c9\u03c2 \u03c6\u03bf\u03c1\u03b5\u03af\u03c2 \u03ba\u03ac\u03c0\u03bf\u03b9\u03b1 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7\u03c2 \u03c3\u03c4\u03bf PRKAR<\/i>1<\/i>A<\/i> <\/i>\u03ba\u03b1\u03b9 \u03c3\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03bc\u03b5\u03bc\u03bf\u03bd\u03c9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03c4\u03ce\u03c3\u03b7 PPNAD \u03ba\u03b1\u03b9 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1 \u03ba\u03ac\u03c0\u03bf\u03b9\u03b1\u03c2 \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7\u03c2 \u03c3\u03c4\u03bf <\/i>PRKAR<\/i>1<\/i>A<\/i> <\/i>(\u03ba\u03c5\u03c1\u03af\u03c9\u03c2 \u03c4\u03b7\u03c2 c.709-7_709-2del). \u00a0\u039a\u03b1\u03b9 \u03b2) \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03bc\u03c5\u03be\u03ce\u03bc\u03b1\u03c4\u03b1 (\u03c3\u03c4\u03bf \u03b4\u03ad\u03c1\u03bc\u03b1, \u03c4\u03b7\u03bd \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac \u03ae \u03c3 \u03c4\u03bf \u03c3\u03c4\u03ae\u03b8\u03bf\u03c2), \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf \u03c4\u03bf\u03c5 \u03b8\u03c5\u03c1\u03b5\u03bf\u03b5\u03b9\u03b4\u03bf\u03cd\u03c2 \u03b1\u03b4\u03ad\u03bd\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03bc\u03b1\u03ba\u03c1\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03ce\u03bd \u03b1\u03c0\u03bf\u03c4\u03b9\u03c4\u03b1\u03bd\u03c9\u03bc\u03ad\u03bd\u03c9\u03bd \u03cc\u03b3\u03ba\u03c9\u03bd \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd Sertoli \u03ba\u03b1\u03b9 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03c0\u03b9\u03bf \u03c3\u03c5\u03c7\u03bd\u03ad\u03c2 PRKAR<\/i>1<\/i>A<\/i> \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2.31<\/sup><\/p>\n

\u0391\u03c6\u03cc\u03c4\u03bf\u03c5 \u03c4\u03b5\u03b8\u03b5\u03af \u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 CNC, \u03c4\u03bf screening \u03c0\u03b5\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03bc\u03b1\u03b3\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03c4\u03bf\u03bc\u03bf\u03b3\u03c1\u03b1\u03c6\u03af\u03b1 (MRI) \u03c4\u03b7\u03c2 \u03c5\u03c0\u03cc\u03c6\u03c5\u03c3\u03b7\u03c2 \u00a0\u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b1\u03bd\u03af\u03c7\u03bd\u03b5\u03c5\u03c3\u03b7 \u03c0\u03b9\u03b8\u03b1\u03bd\u03ce\u03bd \u03c5\u03c0\u03bf\u03c6\u03c5\u03c3\u03b9\u03b1\u03ba\u03ce\u03bd \u03b1\u03b4\u03b5\u03bd\u03c9\u03bc\u03ac\u03c4\u03c9\u03bd, \u03c3\u03c5\u03bd\u03bf\u03b4\u03b5\u03c5\u03cc\u03bc\u03b5\u03bd\u03b7 \u03b1\u03c0\u03cc \u03b5\u03c1\u03b3\u03b1\u03c3\u03c4\u03b7\u03c1\u03b9\u03b1\u03ba\u03cc \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03c0\u03ad\u03b4\u03c9\u03bd \u03b1\u03c5\u03be\u03b7\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bf\u03c1\u03bc\u03cc\u03bd\u03b7\u03bd\u03b7\u03c2 (GH) \u03ba\u03b1\u03b9 \u03c3\u03c9\u03bc\u03b1\u03c4\u03bf\u03bc\u03b5\u03b4\u03af\u03bd\u03b7\u03c2 – C (IGF-1), MRI \u03c4\u03b7\u03c2 \u03c3\u03c0\u03bf\u03bd\u03b4\u03c5\u03bb\u03b9\u03ba\u03ae\u03c2 \u03c3\u03c4\u03ae\u03bb\u03b7\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03ad\u03b3\u03ba\u03b1\u03b9\u03c1\u03b7 \u03b1\u03bd\u03af\u03c7\u03bd\u03b5\u03c5\u03c3\u03b7 \u03c3\u03b2\u03b1\u03bd\u03c9\u03bc\u03ac\u03c4\u03c9\u03bd, \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03c4\u03bf\u03c5 \u03b8\u03c5\u03c1\u03b5\u03bf\u03b5\u03b9\u03b4\u03bf\u03cd\u03c2 \u03b1\u03b4\u03ad\u03bd\u03bf\u03c2, \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03c4\u03bf\u03c5 \u03cc\u03c3\u03c7\u03b5\u03bf\u03c5 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03ac\u03bd\u03b4\u03c1\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03c9\u03bf\u03b8\u03b7\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03c2 \u03b3\u03c5\u03bd\u03b1\u03af\u03ba\u03b5\u03c2, \u03bc\u03ad\u03c4\u03c1\u03b7\u03c3\u03b7 \u00a0\u03c4\u03bf\u03c5 \u03b5\u03c0\u03b9\u03c0\u03ad\u03b4\u03bf\u03c5 \u03ba\u03bf\u03c1\u03c4\u03b9\u03b6\u03cc\u03bb\u03b7\u03c2 \u03bc\u03b5 \u03c3\u03c5\u03bb\u03bb\u03bf\u03b3\u03ae \u03bf\u03cd\u03c1\u03c9\u03bd 24\u03c9\u03c1\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03b1\u03af\u03bc\u03b1 (\u03b7\u03bc\u03b5\u03c1\u03ae\u03c3\u03b9\u03b1 \u03b5\u03c0\u03af\u03c0\u03b5\u03b4\u03b1 \u03ba\u03bf\u03c1\u03c4\u03b9\u03b6\u03cc\u03bb\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03b1\u03b4\u03c1\u03b5\u03bd\u03bf\u03ba\u03bf\u03c1\u03c4\u03b9\u03ba\u03bf\u03c4\u03c1\u03cc\u03c0\u03bf\u03c5 \u03bf\u03c1\u03bc\u03cc\u03bd\u03b7\u03c2), \u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03bf\u03cd\u03bc\u03b5\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03b4\u03bf\u03ba\u03b9\u03bc\u03b1\u03c3\u03af\u03b1 Liddle \u03bc\u03b5 \u03b4\u03b5\u03be\u03b1\u03bc\u03b5\u03b8\u03b1\u03b6\u03cc\u03bd\u03b7 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03af\u03c9\u03c3\u03b7 \u03c4\u03b7\u03c2 PPNAD 23<\/sup>. \u0397 \u03b4\u03bf\u03ba\u03b9\u03bc\u03b1\u03c3\u03af\u03b1 Liddle \u03c3\u03c4\u03b7 PPNAD, \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u201c\u03c0\u03b1\u03c1\u03ac\u03b4\u03bf\u03be\u03b7 \u03b1\u03cd\u03be\u03b7\u03c3\u03b7\u201d \u03c4\u03bf\u03c5 \u03b5\u03c0\u03b9\u03c0\u03ad\u03b4\u03bf\u03c5 \u03ba\u03bf\u03c1\u03c4\u03b9\u03b6\u03cc\u03bb\u03b7\u03c234<\/sup> (\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 4).<\/p>\n

\n

\"3.14image4\"<\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 4. <\/b>\u03ba\u03cd\u03ba\u03bb\u03bf\u03b9: PPNAD (\u03c0\u03c1\u03c9\u03c4\u03bf\u03c0\u03b1\u03b8\u03ae \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b7 \u03bf\u03b6\u03ce\u03b4\u03b7 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd, \u03c4\u03b5\u03c4\u03c1\u03ac\u03b3\u03c9\u03bd\u03b1: MMAD (\u03bf\u03b3\u03ba\u03ce\u03b4\u03b7 \u03bc\u03b1\u03ba\u03c1\u03bf\u03bf\u03b6\u03ce\u03b4\u03b7 \u00a0\u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 \u03c6\u03bb\u03bf\u03b9\u03bf\u03cd \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd) (\u039cassive \u039cacronodular \u0391drenocortical Disease), \u03c4\u03c1\u03af\u03b3\u03c9\u03bd\u03b1: \u03bc\u03bf\u03bd\u03ae\u03c1\u03b7 \u03b1\u03b4\u03b5\u03bd\u03ce\u03bc\u03b1\u03c4\u03b1 \u03c4\u03c9\u03bd \u03b5\u03c0\u03b9\u03bd\u03b5\u03c6\u03c1\u03b9\u03b4\u03af\u03c9\u03bd<\/p>\n

\n

\u03a4\u03bf screening \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 CNC \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac\u03c2 \u03ba\u03ac\u03b8\u03b5 \u03ad\u03be\u03b9 \u03bc\u03ae\u03bd\u03b5\u03c2 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 CNC \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b9\u03b1\u03c4\u03c1\u03b9\u03ba\u03cc \u03b9\u03c3\u03c4\u03bf\u03c1\u03b9\u03ba\u03cc \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ce\u03bd \u03bc\u03c5\u03be\u03c9\u03bc\u03ac\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b5\u03c4\u03b7\u03c3\u03af\u03c9\u03c2 \u03c3\u03c4\u03bf\u03c5\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 CNC \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03c1\u03bd\u03b7\u03c4\u03b9\u03ba\u03cc \u03b9\u03c3\u03c4\u03bf\u03c1\u03b9\u03ba\u03cc \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ce\u03bd \u03bc\u03c5\u03be\u03c9\u03bc\u03ac\u03c4\u03c9\u03bd. \u0397 \u03c5\u03c0\u03bf\u03c4\u03c1\u03bf\u03c0\u03ae \u03c4\u03c9\u03bd \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03ce\u03bd \u03bc\u03c5\u03be\u03c9\u03bc\u03ac\u03c4\u03c9\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03c5\u03c8\u03b7\u03bb\u03cc\u03c4\u03b5\u03c1\u03b7 \u03c3\u03c4\u03bf \u03b3\u03c5\u03bd\u03b1\u03b9\u03ba\u03b5\u03af\u03bf \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03cc \u03ba\u03b1\u03b9 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03bf\u03b4\u03b7\u03b3\u03ae\u03c3\u03b5\u03b9 \u03c3\u03b5 \u03b5\u03b3\u03ba\u03b5\u03c6\u03b1\u03bb\u03b9\u03ba\u03cc \u03b5\u03c0\u03b5\u03b9\u03c3\u03cc\u03b4\u03b9\u03bf \u03c9\u03c2 \u03b5\u03c0\u03b9\u03c0\u03bb\u03bf\u03ba\u03ae, \u03bb\u03cc\u03b3\u03c9 \u03b1\u03c0\u03bf\u03ba\u03cc\u03bb\u03bb\u03b9\u03c3\u03b7\u03c2 \u03bc\u03b9\u03ba\u03c1\u03ce\u03bd \u03c4\u03bc\u03b7\u03bc\u03ac\u03c4\u03c9\u03bd \u03c4\u03bf\u03c5 \u03bc\u03c5\u03be\u03c9\u03bc\u03ac\u03c4\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03b5\u03b9\u03c3\u03bf\u03b4\u03cc \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c4\u03b7 \u03c3\u03c5\u03c3\u03c4\u03b7\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae \u03ba\u03c5\u03ba\u03bb\u03bf\u03c6\u03bf\u03c1\u03af\u03b1. \u0395\u03c0\u03bf\u03bc\u03ad\u03bd\u03c9\u03c2, \u00a0\u03b7 \u03ad\u03b3\u03ba\u03b1\u03b9\u03c1\u03b7 \u03b1\u03bd\u03af\u03c7\u03bd\u03b5\u03c5\u03c3\u03b7, \u03c4\u03b1\u03ba\u03c4\u03b9\u03ba\u03ae \u03c0\u03b1\u03c1\u03b1\u03ba\u03bf\u03bb\u03bf\u03cd\u03b8\u03c3\u03b7 \u03bc\u03b5 \u03c5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf \u03ba\u03b1\u03b9 MRI \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03bf\u03bb\u03cd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03b7\u03bd \u03b1\u03c0\u03bf\u03c4\u03c1\u03bf\u03c0\u03ae \u03c4\u03c9\u03bd \u03b5\u03b3\u03ba\u03b1\u03c6\u03b1\u03ba\u03b9\u03ba\u03ce\u03bd \u03b5\u03c0\u03b5\u03b9\u03c3\u03bf\u03b4\u03af\u03c9\u03bd35<\/sup> (\u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 5).<\/p>\n

\n

\"3.14image5\"<\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 5. <\/b>a<\/i>. \u039cRI (T1-weighted) \u03b5\u03b3\u03ba\u03b5\u03c6\u03ac\u03bb\u03bf\u03c5, \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae \u03bc\u03b5\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7\u03c2 \u00a0\u03ad\u03bd\u03c4\u03b1\u03c3\u03b7 \u03bc\u03b1\u03b3\u03bd\u03b7\u03c4\u03b9\u03ba\u03bf\u03cd \u03c3\u03ae\u03bc\u03b1\u03c4\u03bf\u03c2 (\u03b2\u03ad\u03bb\u03bf\u03c2) \u03b5\u03be\u03b1\u03b9\u03c4\u03af\u03b1\u03c2 \u00a0\u03b5\u03b3\u03ba\u03b5\u03c6\u03b1\u03bb\u03bf\u03bc\u03b1\u03bb\u03ac\u03ba\u03c5\u03bd\u03c3\u03b7\u03c2, \u03b1\u03c0\u03cc\u03c1\u03bf\u03b9\u03b1 \u03b9\u03c3\u03c7\u03b1\u03b9\u03bc\u03b9\u03ba\u03bf\u03cd \u03b5\u03c0\u03b5\u03b9\u03c3\u03bf\u03b4\u03af\u03bf\u03c5; b<\/i>. \u03a5\u03c0\u03ad\u03c1\u03b7\u03c7\u03bf\u03c2 \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac\u03c2 , \u03c3\u03c4\u03bf\u03bd \u03bf\u03c0\u03bf\u03af\u03bf \u03c6\u03b1\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c4\u03bf \u03ba\u03b1\u03c1\u03b4\u03b9\u03b1\u03ba\u03cc \u03bc\u03cd\u03be\u03c9\u03bc\u03b1 \u03c3\u03c4\u03bf\u03bd \u03b1\u03c1\u03b9\u03c3\u03c4\u03b5\u03c1\u03cc \u03ba\u03cc\u03bb\u03c0\u03bf (\u03b2\u03ad\u03bb\u03bf\u03c2). c<\/i>. \u039c\u03b1\u03ba\u03c1\u03bf\u03c3\u03ba\u03bf\u03c0\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03bc\u03c5\u03be\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2<\/p>\n

\n

4. \u0386\u03bb\u03bb\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1<\/b><\/h4>\n

\u0386\u03bb\u03bb\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03bc\u03b5 \u03bc\u03b5 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03ba\u03b1\u03b9 \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c4\u03bf:<\/p>\n

\u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Laugier-Hunziker (LHS): \u03bc\u03b9\u03b1 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b1 \u03c3\u03c0\u03bf\u03c1\u03b1\u03b4\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae, \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b5 \u03c4\u03bf 1970 \u03ba\u03b9\u03b1 \u03b8\u03b1 \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03bf\u03b3\u03b9\u03b3\u03bd\u03ce\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf PJS, \u03bb\u03cc\u03b3\u03c9 \u03c4\u03b7\u03c2 \u03bf\u03bc\u03bf\u03b9\u03cc\u03c4\u03b7\u03c4\u03ac\u03c2 \u03c4\u03bf\u03c5 \u03c3\u03c4\u03b7\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03b7 \u03b4\u03b9\u03b1\u03bd\u03bf\u03bc\u03ae \u03c4\u03c9\u03bd \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03b2\u03bb\u03b1\u03b2\u03ce\u03bd. \u0397 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ac \u03c4\u03bf\u03c5\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03cc\u03c4\u03b9 \u03c4\u03bf LHS \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf 50-60% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03b1\u03c0\u03cc \u03c5\u03c0\u03ad\u03c1\u03c7\u03c1\u03c9\u03c3\u03b7 (\u03bc\u03b5 \u03ba\u03b1\u03c6\u03ad \u03ae \u03c3\u03ba\u03bf\u03c5\u03c1\u03cc\u03c7\u03c1\u03c9\u03bc\u03b7 \u03c7\u03c1\u03ce\u03c3\u03b7) \u03c4\u03c9\u03bd \u03bd\u03c5\u03c7\u03b9\u03ce\u03bd \u2013 \u03bc\u03b5\u03bb\u03b1\u03bd\u03bf\u03bf\u03bd\u03c5\u03c7\u03af\u03b1 – \u03c4\u03c9\u03bd \u03c0\u03b1\u03bb\u03ac\u03bc\u03c9\u03bd \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03c7\u03b5\u03b9\u03bb\u03b9\u03ce\u03bd, \u03b1\u03bb\u03bb\u03ac \u03c7\u03c9\u03c1\u03af\u03c2 \u03c4\u03bf\u03c5\u03c2\u00a0 \u03c0\u03bf\u03bb\u03cd\u03c0\u03bf\u03b4\u03b5\u03c2 \u03c3\u03c4\u03bf \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03cc \u03c3\u03cd\u03c3\u03c4\u03b7\u03bc\u03b136<\/sup>.<\/p>\n

\u03a4\u03bf PTEN <\/i>\u03c3\u03cd\u03b4\u03c1\u03bf\u03bc\u03bf \u03b1\u03bc\u03b1\u03c1\u03c4\u03bf\u03b5\u03b9\u03b4\u03ce\u03bd \u03cc\u03b3\u03ba\u03c9\u03bd, \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Ruvalcaba-Myhre-Smith \u03ae \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Bannayan-Zonnana (\u0392RRS), \u03c4\u03b7 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5 Cowden, \u03c4\u03bf PTEN \u03c3\u03c7\u03b5\u03c4\u03b9\u03b6\u03cc\u03bc\u03b5\u03bd\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03a0\u03c1\u03c9\u03c4\u03ad\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03bf \u03cc\u03bc\u03bf\u03b9\u03bf \u03c4\u03bf\u03c5 \u03a0\u03c1\u03c9\u03c4\u03ad\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf (Proteus-like syndrome): \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u03ba\u03bb\u03b7\u03c1\u03bf\u03bd\u03bf\u03bc\u03b9\u03ba\u03ac \u03bc\u03b5\u03c4\u03b1\u03b4\u03b9\u03b4\u03cc\u03bc\u03b5\u03bd\u03b1 \u03bd\u03bf\u03c3\u03ae\u03bc\u03b1\u03c4\u03b1 \u03c0\u03bf\u03c5 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf PTEN<\/i> (Phosphate \u03ba\u03b1\u03b9 Tensin) \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf (10q22-q23) \u03c3\u03c4\u03bf 80% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 \u03bd\u03cc\u03c3\u03bf \u03c4\u03bf\u03c5\u00a0 Cowden \u03ba\u03b1\u03b9 60% \u03c4\u03c9\u03bd \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd \u03bc\u03b5 \u0392RRS.\u00a0 \u03a4\u03bf PTEN<\/i> \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c0\u03b1\u03af\u03b6\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03c1\u03cc\u03bb\u03bf \u03c3\u03c4\u03b7\u03bd \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03ae \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7, \u03b1\u03c0\u03cc\u03c0\u03c4\u03c9\u03c3\u03b7, \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7, \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bb\u03bb\u03b7\u03bb\u03b5\u03c0\u03af\u03b4\u03c1\u03b1\u03c3\u03b7 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03ba\u03c5\u03c4\u03c4\u03ac\u03c1\u03c9\u03bd37-40<\/sup>. \u0391\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 PTEN<\/i> \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03b5 \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7 \u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03cc\u03c4\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03c0\u03c1\u03c9\u03c4\u03b5\u0390\u03bd\u03b7\u03c2 \u0391\u039a\u03a4. \u00a0\u0388\u03bd\u03b1\u03c2\u00a0 \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03ba\u03b1\u03c4\u03b9\u03bf\u03cd\u03c3\u03b7\u03c2 (downstream) \u03c3\u03c4\u03cc\u03c7\u03bf\u03c5\u03c2 \u03c4\u03b7\u03c2 \u0391\u039a\u03a4 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bc\u03c0\u03bb\u03b5\u03b3\u03bc\u03b1 tuberin-hamartin (TSC1\/TSC2), \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c4\u03bf \u03b1\u03bc\u03b1\u03c1\u03c4\u03bf\u03bc\u03b1\u03c4\u03ce\u03b4\u03b5\u03c2 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03c4\u03b7\u03c2 \u03bf\u03b6\u03ce\u03b4\u03b7\u03c2 \u03c3\u03ba\u03bb\u03ae\u03c1\u03c5\u03bd\u03c3\u03b7\u03c241<\/sup>. \u03a3\u03c4\u03b7\u03bd \u03bf\u03b6\u03ce\u03b4\u03b7 \u03c3\u03ba\u03ae\u03c1\u03c5\u03bd\u03c3\u03b7, \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03a1\u03a4\u0395\u039d \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03b5 \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03af\u03b7\u03c3\u03b7 \u03c4\u03b7\u03c2 \u0391\u039a\u03a4 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03c4\u03b9\u03bf\u03cd\u03c3\u03b1 \u03c1\u03cd\u03b8\u03bc\u03b9\u03c3\u03b7 (down regulation) \u03c4\u03b7\u03c2 tuberin\/TSC2 \u03ba\u03b1\u03b9 mTOR \u03ba\u03b1\u03b9 \u03b5\u03c0\u03b1\u03ba\u03cc\u03bb\u03bf\u03c5\u03b8\u03b7 \u03c0\u03c1\u03bf\u03b1\u03b3\u03c9\u03b3\u03ae \u03c4\u03bf\u03c5 \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03bf\u03cd \u03ba\u03cd\u03ba\u03bb\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03bf\u03bb\u03ae \u03c4\u03b7\u03c2 \u03b1\u03c0\u03cc\u03c0\u03c4\u03c9\u03c3\u03b7\u03c2. \u0397 \u03b1\u03bd\u03ac\u03ba\u03b1\u03bb\u03c5\u03c8\u03b7 \u03b1\u03c5\u03c4\u03bf\u03cd \u03c4\u03bf\u03c5 \u03bc\u03bf\u03bd\u03bf\u03c0\u03b1\u03c4\u03b9\u03bf\u03cd, \u03c3\u03c5\u03bd\u03b4\u03ad\u03b5\u03b9 \u03c4\u03b7\u03c2 \u03c0\u03b1\u03b8\u03bf\u03b3\u03ad\u03bd\u03b5\u03c3\u03b7 \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c7\u03b7\u03bc\u03b1\u03c4\u03b9\u03c3\u03bc\u03bf\u03cd \u03cc\u03b3\u03ba\u03c9\u03bd \u03c3\u03c4\u03b1 \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03b4\u03b7 \u03cc\u03b3\u03ba\u03c9\u03bd \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1, \u03cc\u03c0\u03c9\u03c2 \u03c6\u03b1\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf \u03c0\u03b1\u03c1\u03b1\u03ba\u03ac\u03c4\u03c9 \u03c3\u03c7\u03ae\u03bc\u03b1 (\u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 6).<\/p>\n

\n

\"3.14image6\"<\/p>\n

\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 6.<\/b> \u03a4\u03b1 o\u03b3\u03ba\u03bf\u03ba\u03b1\u03c4\u03b1\u03c3\u03c4\u03b1\u03bb\u03c4\u03b9\u03ba\u03ac \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03b1 LKB1, PTEN \u03ba\u03b1\u03b9 PRKAR1A \u03b1\u03c3\u03ba\u03bf\u03cd\u03bd \u03b1\u03bd\u03b1\u03c3\u03c4\u03b1\u03bb\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b4\u03c1\u03ac\u03c3\u03b5\u03b9\u03c2 \u03c3\u03c4\u03b7 \u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03cc\u03c4\u03b7\u03c3\u03b7 \u03b4\u03b9\u03b1\u03bc\u03ad\u03c3\u03bf\u03c5 \u03c4\u03bf\u03c5 TSC \u03c3\u03c5\u03bc\u03c0\u03bb\u03ad\u03b3\u03bc\u03b1\u03c4\u03bf\u03c2 , \u03c0\u03bf\u03c5 \u03b1\u03c0\u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03bf mTOR, \u03b5\u03bd\u03ce \u03b7 SHP2 \u03b5\u03bd\u03af\u03c3\u03c7\u03c5\u03c3\u03b7 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 (gain of function) \u03bc\u03b5\u03c4\u03ac\u03bb\u03bb\u03b1\u03be\u03b7 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03b5 \u03ba\u03b1\u03c4\u03b9\u03bf\u03cd\u03c3\u03b1 mTOR \u03b5\u03bd\u03b5\u03c1\u03b3\u03bf\u03c0\u03bf\u03af\u03b7\u03c3\u03b7. \u039a\u03b1\u03b8\u2019\u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ac \u03c4\u03b1 \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03b1\u03b3\u03bc\u03ad\u03bd\u03bf \u03c3\u03b5 \u03b4\u03b9\u03b1\u03ba\u03c1\u03b9\u03c4\u03ac \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03c3\u03c4\u03b9\u03b3\u03bc\u03ac\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03ac\u03bb\u03bb\u03c9\u03bd \u03b4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03b2\u03bb\u03b1\u03b2\u03ce\u03bd.<\/p>\n

\n

{\u03a3\u03c5\u03bd\u03c4\u03bc\u03ae\u03c3\u03b5\u03b9\u03c2: LKB1, serine\/threonine kinase 11; AMPK, AMP-activated protein kinase; PTEN, phosphatase and tensin homolog; P13K, 1-phosphatidylinositol 3-kinase; AKT, protein kinase B; NF1; neurofibromatosis type 1MEK, mitogen activated protein kinase kinase; ERK, extracellular signal-regulated kinase; TSC1; tuberous sclerosis 1; TSC2; tuberous sclerosis 2; mTOR, mammalian target of rapamycin}<\/p>\n

\u03a0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 500 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03b5\u03c2 \u03b3\u03bf\u03bd\u03b9\u03b4\u03b9\u03b1\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03c3\u03c4\u03bf <\/i>PTEN<\/i> \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03bd\u03b1\u03c6\u03b5\u03c1\u03b8\u03b5\u03af \u03bc\u03ad\u03c7\u03c1\u03b9 \u03c4\u03ce\u03c1\u03b142<\/sup>. \u0391\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2 \u03bc\u03b5 PTEN<\/i> <\/i>\u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2, \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b9\u03b8\u03b1\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03bd\u03b1 \u03b1\u03bd\u03b1\u03c0\u03c4\u03cd\u03be\u03bf\u03c5\u03bd \u03c0\u03bf\u03bb\u03bb\u03b1\u03c0\u03bb\u03ac \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1 \u03c3\u03b5 \u03b4\u03b9\u03ac\u03c6\u03bf\u03c1\u03b1 \u03cc\u03c1\u03b3\u03b1\u03bd\u03b1, \u03cc\u03c0\u03c9\u03c2 \u03c4\u03bf \u03b4\u03ad\u03c1\u03bc\u03b1, \u03c4\u03bf \u03c3\u03c4\u03ae\u03b8\u03bf\u03c2, \u03c4\u03bf \u03b8\u03c5\u03c1\u03bf\u03b5\u03b9\u03b4\u03ae \u03b1\u03b4\u03ad\u03bd\u03b1, \u03c4\u03bf \u03ba\u03b5\u03bd\u03c4\u03c1\u03b9\u03ba\u03cc \u03bd\u03b5\u03c5\u03c1\u03b9\u03ba\u03cc \u03c3\u03cd\u03c3\u03c4\u03b7\u03bc\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03bf \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03cc. \u03a4\u03b1 \u03b1\u03bc\u03b1\u03c1\u03c4\u03ce\u03bc\u03b1\u03c4\u03b1 \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03b9\u03ba\u03bf\u03af \u03cc\u03b3\u03ba\u03bf\u03b9, \u03b1\u03bb\u03bb\u03ac \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03cc\u03c5\u03bd \u03b1\u03c0\u03cc\u03c1\u03b5\u03b9\u03b1 \u03c3\u03c5\u03b3\u03ba\u03ad\u03bd\u03c4\u03c1\u03c9\u03c3\u03b7\u03c2 \u03b9\u03c3\u03c4\u03ce\u03bd, \u03c0\u03bf\u03c5 \u03b1\u03bd\u03ae\u03ba\u03bf\u03c5\u03bd \u03c3\u03c4\u03bf \u03cc\u03c1\u03b3\u03b1\u03bd\u03bf \u03c0\u03bf\u03c5 \u03b2\u03c1\u03ad\u03b8\u03b7\u03ba\u03b5 \u03b7 \u03c3\u03c5\u03b3\u03ba\u03ad\u03bd\u03c4\u03c1\u03c9\u03c3\u03b7 \u03b1\u03c5\u03c4\u03ae,\u00a0 \u03b1\u03bb\u03bb\u03ac \u03ad\u03c7\u03bf\u03c5\u03bd \u00ab\u03bb\u03b1\u03bd\u03b8\u03b1\u03c3\u03bc\u03ad\u03bd\u03b1 \u03c3\u03c5\u03bd\u03b1\u03b8\u03c1\u03bf\u03b9\u03c3\u03b8\u03b5\u03af\u00bb\u00a0 \u03c3\u03c4\u03b7 \u03b4\u03b9\u03ac\u03c1\u03ba\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7\u03c243<\/sup>.\u03a4\u03bf \u00a0\u0392RRS \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03b5\u03c1\u03b7\u03bc\u03ad\u03bd\u03b7 \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7, \u03bc\u03b1\u03ba\u03c1\u03bf\u03ba\u03b5\u03c6\u03b1\u03bb\u03af\u03b1, \u03bb\u03b9\u03c0\u03c9\u03bc\u03ac\u03c4\u03c9\u03c3\u03b7, \u03ba\u03b1\u03b8\u03ce\u03c2 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u03cd\u03c0\u03b1\u03c1\u03be\u03b7 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03ba\u03b7\u03bb\u03af\u03b4\u03c9\u03bd \u03c3\u03c4\u03b7 \u03b2\u03ac\u03bb\u03b1\u03bd\u03bf \u03c4\u03b7\u03c2 \u03c0\u03ad\u03bf\u03c5\u03c2. \u00a0\u03a0\u03c1\u03cc\u03c3\u03c6\u03b1\u03c4\u03b5\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b4\u03b5\u03af\u03be\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03c4\u03bf \u03a1\u03a4\u0395\u039d<\/i> \u03b5\u03af\u03bd\u03b1\u03b9 \u03bf\u03b3\u03ba\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03ba\u03bb\u03b5\u03b9\u03b4\u03af \u03c3\u03c4\u03b7 \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03c4\u03bf\u03c5 \u03b2\u03b1\u03c3\u03b9\u03ba\u03bf\u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03b9\u03ba\u03bf\u03cd \u03ba\u03b1\u03b9 \u03b5\u03ba \u03c4\u03bf\u03c5 \u03c0\u03bb\u03b1\u03ba\u03ce\u03b4\u03b5\u03c2 \u03b5\u03c0\u03b9\u03b8\u03b7\u03bb\u03af\u03bf\u03c5 \u03ba\u03b1\u03c1\u03ba\u03af\u03bd\u03bf\u03c5 \u03c4\u03bf\u03c5 \u03b4\u03ad\u03c1\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03bc\u03b5\u03bb\u03ac\u03bd\u03c9\u03bc\u03b144<\/sup>, \u03cc\u03c0\u03c9\u03c2 \u03ba\u03b1\u03b9 \u03bc\u03b5\u03c4\u03b1\u03bb\u03bb\u03ac\u03be\u03b5\u03b9\u03c2 \u03b1\u03c5\u03c4\u03bf\u03cd \u03b1\u03bd\u03b5\u03c5\u03c1\u03af\u03c3\u03ba\u03bf\u03bd\u03c4\u03b1\u03b9 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b9\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03b1\u03c5\u03c4\u03b9\u03c3\u03bc\u03bf\u03cd45<\/sup>.<\/p>\n

5. \u03a3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf <\/b>LEOPARD<\/b> <\/b><\/b><\/h4>\n

LEOPARD \u03b5\u03af\u03bd\u03b1\u03b9\u00a0 \u03c4\u03bf \u03b1\u03ba\u03c1\u03c9\u03bd\u03cd\u03bc\u03b9\u03bf \u03c4\u03c9\u03bd:<\/p>\n

L<\/b>entigines: \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1, E<\/b>lectrocardiographic conduction defects: \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ad\u03c2 \u03b1\u03b3\u03c9\u03b3\u03b9\u03bc\u03cc\u03c4\u03b7\u03c4\u03b1\u03c2 \u03c3\u03c4\u03bf \u03b7\u03bb\u03b5\u03ba\u03c4\u03c1\u03bf\u03ba\u03b1\u03c1\u03b4\u03b9\u03bf\u03b3\u03c1\u03ac\u03c6\u03b7\u03bc\u03b1, O<\/b>cular hypertelorism: \u039f\u03c6\u03b8\u03b1\u03bb\u03bc\u03b9\u03ba\u03cc\u03c2 \u03c5\u03c0\u03b5\u03c4\u03b5\u03bb\u03bf\u03c1\u03b9\u03c3\u03bc\u03cc\u03c2, P<\/b>ulmonary stenosis: \u03c3\u03c4\u03ad\u03bd\u03c9\u03c3\u03b7 \u03c4\u03b7\u03c2 \u03c0\u03bd\u03b5\u03c5\u03bc\u03bf\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b2\u03b1\u03b2\u03af\u03b4\u03b1\u03c2, A<\/b>bnormal genitalia: \u03b1\u03c4\u03b5\u03bb\u03ae \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03c4\u03c9\u03bd \u03b3\u03b5\u03bd\u03bd\u03b7\u03c4\u03b9\u03ba\u03ce\u03bd \u03bf\u03c1\u03b3\u03ac\u03bd\u03c9\u03bd, R<\/b>etardation of growth: \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03ba\u03b1\u03b9 sensorineural D<\/b>eafness: \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03b9\u03c3\u03b8\u03b7\u03c4\u03ae\u03c1\u03b9\u03b1 \u03ba\u03ce\u03c6\u03c9\u03c3\u03b746<\/sup><\/p>\n

\u0397 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03b5 \u03c3\u03c5\u03bd\u03b4\u03c5\u03b1\u03c3\u03bc\u03cc \u03bc\u03b5 \u03b4\u03c5\u03bf \u03b1\u03c0\u03cc \u03c4\u03b1 \u03ac\u03bb\u03bb\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac.\u00a0 \u03a4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03c5\u03c7\u03bd\u03ac \u03b7 \u03c0\u03c1\u03ce\u03c4\u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03ba\u03b4\u03ae\u03bb\u03c9\u03c3\u03b7\u00a0 \u03ba\u03b1\u03b9 \u03b1\u03c0\u03b1\u03bd\u03c4\u03ce\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03bf \u03c0\u03c1\u03cc\u03c3\u03c9\u03c0\u03bf, \u03c3\u03c4\u03bf \u03ac\u03bd\u03c9 \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03bf\u03c5 \u03ba\u03bf\u03c1\u03bc\u03bf\u03cd, \u03c3\u03c0\u03b1\u03bd\u03b9\u03ce\u03c2 \u03b4\u03b5 \u03c3\u03c4\u03bf \u03c3\u03c4\u03bf\u03bc\u03b1\u03c4\u03b9\u03ba\u03cc \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf , \u03c4\u03b1 \u03ac\u03ba\u03c1\u03b1, \u03c4\u03b1 \u03b5\u03be\u03c9\u03c4\u03b5\u03c1\u03b9\u03ba\u03ac \u03b3\u03b5\u03bd\u03bd\u03b7\u03c4\u03b9\u03ba\u03ac \u03cc\u03c1\u03b3\u03b1\u03bd\u03b1 \u03ae \u03c4\u03bf\u03bd \u03b5\u03c0\u03b9\u03c0\u03b5\u03c6\u03c5\u03ba\u03cc\u03c4\u03b147<\/sup>. \u03a4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03c3\u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf LEOPARD \u03b4\u03b5\u03bd \u03c0\u03b5\u03c1\u03bd\u03bf\u03cd\u03bd \u03c4\u03bf \u03cc\u03c1\u03b9\u03bf \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03b4\u03ad\u03c1\u03bc\u03b1\u03c4\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03b2\u03bb\u03b5\u03bd\u03bd\u03bf\u03b3\u03cc\u03bd\u03bf\u03c5 \u03c3\u03c4\u03b1 \u03c7\u03b5\u03af\u03bb\u03b7, \u03ad\u03bd\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03c0\u03bf\u03c5 \u03c4\u03bf \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03b1\u03c0\u03cc \u03c4\u03bf CNC \u03ba\u03b1\u03b9 \u03c4\u03bf PJS48<\/sup>.<\/p>\n

T\u03b1 \u03b4\u03c5\u03c3\u03bc\u03bf\u03c1\u03c6\u03b9\u03ba\u03ac \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03bf\u03c5\u03bd \u03c5\u03c0\u03b5\u03c1\u03c4\u03b5\u03bb\u03bf\u03c1\u03b9\u03c3\u03bc\u03cc \u03ba\u03b1\u03b9 \u03c0\u03c4\u03ce\u03c3\u03b7 \u03c4\u03c9\u03bd \u03b2\u03bb\u03b5\u03c6\u03ac\u03c1\u03c9\u03bd.\u00a0 \u0391\u03c5\u03c4\u03ac \u03c4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c3\u03b5 \u03c3\u03c5\u03bd\u03b4\u03c5\u03b1\u03c3\u03bc\u03cc \u03bc\u03b5 \u03c4\u03b7\u03bd \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03c3\u03c5\u03c7\u03bd\u03cc\u03c4\u03b7\u03c4\u03b1 \u03c4\u03b7\u03c2 \u03c3\u03c4\u03ad\u03bd\u03c9\u03c3\u03b7\u03c2 \u03c4\u03b7\u03c2 \u03c0\u03bd\u03b5\u03c5\u03bc\u03bf\u03bd\u03b9\u03ba\u03ae\u03c2 \u03b2\u03b1\u03bb\u03b2\u03af\u03b4\u03b1\u03c2, \u03ad\u03c7\u03bf\u03c5\u03bd \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03c6\u03b1\u03b9\u03bd\u03bf\u03c4\u03c5\u03c0\u03b9\u03ba\u03ae \u03b5\u03c0\u03b9\u03ba\u03ac\u03bb\u03c5\u03c8\u03b7 \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Noonan \u2013 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac, \u03c4\u03b1 \u03b4\u03c5\u03bf \u03b1\u03c5\u03c4\u03ac \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03b1, \u03bc\u03bf\u03b9\u03c1\u03ac\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03b1\u03bb\u03bb\u03af\u03bb\u03b9\u03bf, PTPN<\/i>11<\/i> \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf \u03c3\u03c4\u03bf \u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 12q24.149<\/sup>. \u03a4\u03bf \u00a0PTPN<\/i>11 <\/i>\u03ba\u03c9\u03b4\u03b9\u03ba\u03bf\u03c0\u03bf\u03b9\u03b5\u03af \u03c4\u03bf SHP2 (\u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 3), \u03ad\u03bd\u03b1 \u03b8\u03b5\u03c4\u03b9\u03ba\u03cc \u03c1\u03c5\u03b8\u03bc\u03b9\u03c3\u03c4\u03ae \u03c4\u03b7\u03c2 RAS-MAPK \u03c3\u03b7\u03bc\u03b1\u03c4\u03bf\u03b4\u03cc\u03c4\u03b7\u03c3\u03b7\u03c2. \u039c\u03b9\u03b1 \u03be\u03b5\u03c7\u03c9\u03c1\u03b9\u03c3\u03c4\u03ae \u03bc\u03bf\u03c1\u03c6\u03ae \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 LEOPARD \u03bf\u03c6\u03b5\u03af\u03bb\u03b5\u03c4\u03b1\u03b9 \u03c3\u03b5 RAF1 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b5\u03c2 (\u03c7\u03c1\u03c9\u03bc\u03cc\u03c3\u03c9\u03bc\u03b1 3p25), \u03b1\u03c5\u03c4\u03ae \u03b7 \u03bc\u03bf\u03c1\u03c6\u03ae \u03c3\u03c7\u03b5\u03c4\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03bc\u03b5 \u03c5\u03c0\u03b5\u03c1\u03c4\u03c1\u03bf\u03c6\u03b9\u03ba\u03ae \u03ba\u03b1\u03c1\u03b4\u03b9\u03bf\u03bc\u03c5\u03bf\u03c0\u03ac\u03b8\u03b5\u03b9\u03b150<\/sup>.<\/p>\n

\u03a4\u03b1 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03b1\u03c6\u03b5\u03af \u03ba\u03b1\u03b9 \u03c3\u03b5 \u03b1\u03c3\u03b8\u03b5\u03bd\u03b5\u03af\u03c2\u00a0 \u03bc\u03b5 \u03b5\u03bc\u03c6\u03ac\u03bd\u03b9\u03c3\u03b7 \u03b1\u03c1\u03c4\u03b7\u03c1\u03b9\u03b1\u03ba\u03bf\u03cd \u03b4\u03b9\u03b1\u03c7\u03c9\u03c1\u03b9\u03c3\u03bc\u03bf\u03cd (dissection) \u03c3\u03b5 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03bd\u03b5\u03b1\u03c1\u03ae \u03b7\u03bb\u03b9\u03ba\u03af\u03b1, \u03bb\u03cc\u03b3\u03c9 \u03c0\u03b9\u03b8\u03b1\u03bd\u03ae\u03c2 \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03af\u03b1\u03c2 \u03c3\u03b5 \u03ba\u03ac\u03c0\u03bf\u03b9\u03b1 \u03ba\u03cd\u03c4\u03c4\u03b1\u03c1\u03b1 \u03c0\u03bf\u03c5 \u03c0\u03c1\u03bf\u03ad\u03c1\u03c7\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03bd\u03b5\u03c5\u03c1\u03b9\u03ba\u03ae \u03b1\u03ba\u03c1\u03bf\u03bb\u03bf\u03c6\u03af\u03b151<\/sup>.<\/p>\n

\u0392\u03b9\u03b2\u03bb\u03b9\u03bf\u03b3\u03c1\u03b1\u03c6\u03af\u03b1<\/b><\/b><\/h4>\n
    \n
  1. Lodish MB, Stratakis CA (2011) The differential diagnosis of familial lentiginosis syndromes. Familial Cancer 10:481-490<\/li>\n
  2. Fitzpatrick TB, Wolff K (2008) Fitzpatrick\u2019s dermatology in general medicine, 7th edn. McGraw-Hill, New York<\/li>\n
  3. Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch) Nederl Maandschr Geneesk. 1921;10:134\u201346<\/li>\n
  4. Jeghers H, McKusick V, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med. 1949;241:993<\/li>\n
  5. Tomlinson IP, Houlston RS (1997) Peutz-Jeghers syndrome. J Med Genet 34:1007\u20131011<\/li>\n
  6. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18:38\u201343<\/li>\n
  7. Hemminki A, Markie D, Tomlinson I, et al. A serine\/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184\u20137<\/li>\n
  8. Miyaki M, Iijima T, Hosono K, et al. Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Res. 2000;60:6311\u20133<\/li>\n
  9. Rowan A, Bataille V, MacKie R et al. Somatic mutationsin the Peutz-Jeghers (LKB1\/STKII) gene in sporadic malignant melanomas. J Invest Dermatol 1999;112:509\u2013511<\/li>\n
  10. Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005;14(Spec No 2):R251\u20138<\/li>\n
  11. Rosner M, Hanneder M, Siegel N, et al. The mTOR pathway and its role in human genetic diseases. Mutat Res. 2008;659:284\u201392<\/li>\n
  12. Sandsmark DK, Pelletier C, Weber JD, et al. Mammalian target of rapamycin: master regulator of cell growthin the nervous system. Histol Histopathol 2007;22:895\u2013903<\/li>\n
  13. Carney, J A. The Carney complex (myxomas, spotty pigmentation, endocrine overactivity, and schwannomas). Dermatologic clinics 1995; 13: 19 -26<\/li>\n
  14. Stratakis CA, Kirschner LS, Carney JA. Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. Am J Med Genet 1998; 80: 183-5<\/li>\n
  15. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985; 64:270-83<\/li>\n
  16. Stratakis CA, Carney JA, Lin JP et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11kindreds and linkage to the short arm of chromosome 2. The Journal of Clinical Investigation 1996; 97: 699-705<\/li>\n
  17. Bertherat J, Horvath A, Groussin L et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2019-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. Journal of Clinical Endocrinology and Metabolism 2009;94:2085-91.<\/li>\n
  18. Kinderman FS, Kim C, von Daake S et al. A dynamic mechanism for AKAP binding to RII isoforms of cAMP-dependent protein kinase. Molecular Cell 2006;24:397-408.<\/li>\n
  19. \u03a4asken K, Skalhegg BS, Tasken KA et al. Structure, function, and regulation of human cAMP-dependent protein kinases. Advances in Second Messenger and Phosphoprotein Research 1997; 31: 191-204.<\/li>\n
  20. Nolen B, Taylor S, Ghosh G. Regulation of protein kinases; controlling activity through activation segment conformation. Mol Cell. 2004; 155: 661-675<\/li>\n
  21. Scott JD. Cyclic nucleotide-dependent protein kinases. Pharmacology & Therapeutics 1991; 50: 123-145<\/li>\n
  22. Shabb JB. Physiological substrates of cAMP-dependent protein kinase. Chemical Reviews 2001; 101: 2381-2411<\/li>\n
  23. Rothenbuhler A, Stratakis CA. Best Practice & Research Clinical Endocrinology & Metabolism 2010; 24: 389-399<\/li>\n
  24. Horvath A, Bertherat J, Groussin L et al. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A)<\/i>: An update. Human Mutation 2010; 4: 369-379<\/li>\n
  25. Kirschner LS, Sandrini F, Monbo Jet al. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet. 2000; 9: 3037-3046<\/li>\n
  26. Greene EL, Horvath AD, Nesterova M et al. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Hum Mutat. 2008; 29: 633-639<\/li>\n
  27. Patronas Y, Horvath A, Greene E, et al. In vitro studies of novel PRKAR1A mutants that extend the predicted RI\u03b1 protein sequence into the 3′-untranslated open reading frame: proteasomal degradation leads to RI\u03b1 haploinsufficiency and Carney complex.\u00a0 J Clin Endocrinol Metab. 2012; 97: E496-502<\/li>\n
  28. Salpea P, Horvath A, London E, et al. Large deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations\u00a0 and implications for genetic testing J Clin Endocrinol Metab. 2013; on press<\/li>\n
  29. Grumbach MM, Biller BM, Braunstein GD et al. Management of the clinically inapparent adrenal mass (“incidentaloma”). Ann Intern Med. 2003; 138: 424-429<\/li>\n
  30. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001; 86: 4041-4046<\/li>\n
  31. Bertherat J, Horvath A, Groussin L, et al. \u00a0Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 2085-2091<\/li>\n
  32. Gunther DF, Bourdeau I, Matyakhina L, et al. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? J Clin Endocrinol Metab 2004; 89: 3173\u20133182<\/li>\n
  33. Horvath A, Giatzakis C, Robinson-White A, et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res\u00a0 2006; 66: 11571\u201311575<\/li>\n
  34. Stratakis CA, Sarlis N, Kirschner LS, et al. Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Annals of Internal Medicine 1999; 131: 585-591<\/li>\n
  35. Briassoulis G, Kuburovic V, Xekouki P, et al. Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. Journal of stroke and cerebrovascular diseases. 2012; 21:914.e1-.e918.<\/li>\n
  36. Lampe AK, Hampton PJ, Woodford-Richens K., et al. Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome. J Med Genet 2003; 40:e77<\/li>\n
  37. Nelen MR, Padberg GW, Peeters EA et al. Localization of the gene for Cowden disease to chromosome 10q22\u201323. Nat Genet 1996; 13:114\u2013116<\/li>\n
  38. Nelen MR, van Staveren WC, Peeters EA et al. Germline mutations in the PTEN\/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997; 6:1383\u20131387<\/li>\n
  39. Marsh DJ, Coulon V, Lunetta KL et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan- Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet \u00a01998; 7:507\u2013515<\/li>\n
  40. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992; 44:307\u2013314<\/li>\n
  41. Manning BD, Cantley LC (2003) United at last: the tuberous sclerosis complex gene products connect the phosphoinositide 3-kinase\/Akt pathway to mammalian target of rapamycin (mTOR) signalling. Biochem Soc Trans 31:573\u2013578<\/li>\n
  42. Tan MH, Mester J, Peterson C et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 2011; 88:42\u201356<\/li>\n
  43. Majno G, Joris I. Cells, tissue, and disease: principles of general pathology. Oxford University Press 2004, NY<\/li>\n
  44. Ming M, He YY. PTEN: new insights into its regulation and function in skin cancer. J Invest Dermatol 2009; 129:2109\u20132112<\/li>\n
  45. Lv JW, Cheng TL, Qiu ZL, et al. Role of the PTEN signaling pathway in autism spectrum disorder. Neurosci Bull 2013; http:\/\/www.neurosci.cn\u00a0 (DOI: 10.1007\/s12264-013-1382-3)<\/li>\n
  46. Gorlin RJ, Anderson RC, Blaw M. \u00a0Multiple lentigenes syndrome. Am J Dis Child 1969; 117:652\u2013662<\/li>\n
  47. Abdelmalek NF, Gerber TL, Menter A. \u00a0Cardiocutaneous syndromes and associations. J Am Acad Dermatol 2002; 46:161\u2013183<\/li>\n
  48. Bauer AJ, Stratakis CA. The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis. J Med Genet\u00a0 2005; 42:801\u2013810<\/li>\n
  49. Pandit B, Sarkozy A, Pennacchio LA et al. \u00a0Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 39:1007\u20131012<\/li>\n
  50. Razzaque MA, Nishizawa T, Komoike Y et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007; 39:1013\u20131017<\/li>\n
  51. Schievink WI, Michels VV, Mokri B, et al. A familial syndrome of arterial dissections with lentiginosis. N Engl J Med 1995; 332:576-579<\/li>\n<\/ol>\n
    \n

    Created: February 25, 2015
    \nLast update: February 25, 2015<\/p>\n","protected":false},"excerpt":{"rendered":"

      \u03a7\u03b1\u03c1\u03ac\u03bb\u03b1\u03bc\u03c0\u03bf\u03c2 \u039b\u03c5\u03c3\u03af\u03ba\u03b1\u03c4\u03bf\u03c2 \u039a\u03c9\u03bd\u03c3\u03c4\u03b1\u03bd\u03c4\u03af\u03bd\u03bf\u03c2 \u0391. \u03a3\u03c4\u03c1\u03b1\u03c4\u03ac\u03ba\u03b7\u03c2 Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), NIH 1. \u0395\u03b9\u03c3\u03b1\u03b3\u03c9\u03b3\u03ae \u03a3\u03c4\u03b7\u03bd \u0399\u03b1\u03c4\u03c1\u03b9\u03ba\u03ae \u03bf \u03cc\u03c1\u03bf\u03c2 \u03bc\u03b5\u03bb\u03b1\u03b3\u03c7\u03c1\u03c9\u03bc\u03b1\u03c4\u03b9\u03ba\u03ac \u03c3\u03c4\u03af\u03b3\u03bc\u03b1\u03c4\u03b1\u00a0 \u03ae \u03ba\u03b7\u03bb\u03af\u03b4\u03b5\u03c2 \u03c0\u03c1\u03bf\u03ad\u03c1\u03c7\u03b5\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03bb\u03b1\u03c4\u03b9\u03bd\u03b9\u03ba\u03ae \u03bb\u03ad\u03be\u03b7 \u00a0lentigo (\u03c0\u03bf\u03c5 \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 \u03bc\u03b9\u03ba\u03c1\u03ae \u03c6\u03b1\u03ba\u03ae) \u03ba\u03b1\u03b9 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03bf\u03cd\u03bd \u00a0\u03b5\u03c0\u03af\u03c0\u03b5\u03b4\u03b1 \u03c7\u03c1\u03c9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03ba\u03b7\u03bb\u03af\u03b4\u03b5\u03c2 \u03c3\u03c4\u03bf \u03b4\u03ad\u03c1\u03bc\u03b1 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03b5\u03c0\u03b9\u03b8\u03ae\u03bb\u03b9\u03bf1. \u03a7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03af\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf \u03bc\u03b9\u03ba\u03c1\u03cc \u03c4\u03bf\u03c5\u03c2 \u03bc\u03ad\u03b3\u03b5\u03b8\u03bf\u03c2 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"pageCustom.php","meta":{"footnotes":""},"tags":[],"_links":{"self":[{"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/pages\/1118"}],"collection":[{"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1118"}],"version-history":[{"count":6,"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/pages\/1118\/revisions"}],"predecessor-version":[{"id":1120,"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=\/wp\/v2\/pages\/1118\/revisions\/1120"}],"wp:attachment":[{"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1118"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/e-endocrinology.gr\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1118"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}