{"id":2559,"date":"2009-02-28T23:37:40","date_gmt":"2009-02-28T23:37:40","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/endmen\/"},"modified":"2025-05-14T19:11:31","modified_gmt":"2025-05-14T19:11:31","slug":"endmen","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/endmen\/","title":{"rendered":"Diagnosis of Multiple Endocrine Neoplasia Syndromes"},"content":{"rendered":"<div class=\"99c380e4b4a7b96c35d7ddf7dcb434e8\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>The multiple endocrine neoplasia (MEN) syndromes are rare autosomal-dominant conditions that predispose affected individuals to benign and malignant tumors of the pituitary, thyroid, parathyroids, adrenals, endocrine pancreas, paraganglia, or nonendocrine organs.<\/p>\n<p><!--more--><\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"1\">\n<tbody>\n<tr>\n<td style=\"border: 1pt solid windowtext; padding: 0cm 5.4pt; width: 116.6pt;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\"><strong> Syndrome<\/strong><\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: 1pt 1pt 1pt medium solid solid solid none windowtext windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\"><strong> Mutated gene<\/strong><\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: 1pt 1pt 1pt medium solid solid solid none windowtext windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\"><strong> Manifestations<\/strong><\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">MEN1<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">MEN1<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Primary hyperparathyroidism (usually four-gland hyperplasia), anterior pituitary adenomas, tumors of endocrine pancreas and duodenum, foregut carcinoids<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">MEN subtype 2A<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">RET proto-oncogene<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Medullary thyroid cancer, pheochromocytoma, primary hyperparathyroidism (usually single adenoma), cutaneous lichen amyloidosis, Hirschsprung disease<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">MEN subtype 2B<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">RET proto-oncogene<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Medullary thyroid cancer, pheochromocytoma, marfanoid body habitus, facial features resulting from mucosal neuromas, ganglioneuromatosis of the gastrointestinal tract<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial medullary thyroid cancer<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">RET proto-oncogene<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Medullary thyroid cancer in at least four family members, with documented absence of other endocrinopathies<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Hyperparathyroidism-jaw tumor syndrome<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">HRPT2<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Primary hyperparathyroidism (usually single adenoma), ossifying fibromas of maxilla or mandible, renal cysts and hamartomas, 15% risk of parathyroid carcinoma<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial isolated hyperparathyroidism<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">MEN1, HRPT2, CASR, other<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Nonsyndromic primary hyperparathyroidism<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial hypocalciuric hypercalcemia<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">CASR<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Benign hypercalcemia; medical management only<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">von Hippel-Lindau syndrome (VHL)<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">VHL<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Pheochromocytoma, retinal and central nervous system hemangioblastoma, renal cysts and clear cell carcinoma, pancreatic cysts and islet cell tumors, endolymphatic sac tumors, papillary cystadenomas of the epididymis and broad ligament<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial pheochromocytoma\/ paraganglioma syndrome<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">SDHB, SDHC, SDHD<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Multiple paragangliomas and pheochromocytoma<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Neurofibromatosis type I<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">NF1<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Pheochromocytoma, characteristic physical features (eg, caf\u00e9-au-lait spots, neurofibromas, axillary and inguinal freckling)<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Cowden syndrome<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">PTEN<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Nonmedullary thyroid cancer (usually follicular rather than papillary); benign and malignant tumors of skin, oral mucosa, breast, and uterus<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial adenomatous polyposis<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">APC<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Hundreds of adenomatous colon polyps, colon cancer, cribriform morular variant of papillary thyroid cancer<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Carney complex<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">PRKAR1A<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Endocrine tumors (including thyroid, pituitary, primary pigmented nodular adrenocortical disease), characteristic skin pigmentation, myxomas, melanotic schwannomas<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"padding: 0cm 5.4pt; width: 116.6pt; border: medium 1pt 1pt none solid solid -moz-use-text-color windowtext windowtext;\" valign=\"top\" width=\"155\">\n<p class=\"MsoNormal\">Familial nonmedullary thyroid cancer<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 117pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"156\">\n<p class=\"MsoNormal\">Unknown<\/p>\n<\/td>\n<td style=\"padding: 0cm 5.4pt; width: 215.3pt; border: medium 1pt 1pt medium none solid solid none -moz-use-text-color windowtext windowtext -moz-use-text-color;\" valign=\"top\" width=\"287\">\n<p class=\"MsoNormal\">Nonsyndromic nonmedullary thyroid cancer<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<div class=\"Section1\"><\/div>\n<p>&nbsp;<\/p>\n<p class=\"MsoNormal\"><strong>References:<\/strong><\/p>\n<div class=\"Section1\">\n<ol style=\"margin-top: 0cm;\">\n<li class=\"MsoNormal\">\n<p class=\"MsoNormal\">Callender GG, Rich TA, Perrier ND. Multiple endocrine neoplasia syndromes. Surg Clin North Am. 2008 Aug;88(4):863-95 <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/18672144\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/p>\n<\/li>\n<\/ol>\n<\/div>\n<div class=\"Section1\"><\/div>\n<div class=\"Section1\">Created: Nov 01, 2008<\/div>\n<div class=\"Section1\"><\/div>\n<p><\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sorry, this entry is only available in Espa\u00f1ol.<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[153],"tags":[123,13,1713,1712,1322,469,1711,1405,1710,1657],"class_list":["post-2559","post","type-post","status-publish","format-standard","hentry","category-endocrinology-and-metabolism","tag-diagnosis","tag-diagnostico","tag-endocrina","tag-endocrine","tag-endocrinology","tag-multiple","tag-neoplasia","tag-oncology","tag-sindromes","tag-syndromes"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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