Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities.
A patient had a parathyroid adenoma and prolactin-secreting pituitary tumor, suggestive of the multiple endocrine neoplasia (MEN) I syndrome. The presence of a marfanoid habitus--found more typically in MEN III syndrome--as well as mitral valve prolapse, mental retardation, and bilateral optic atrophy suggests a new variant of the MEN syndrome, possibly representing widespread dysplasia of endocrine and other tissues.
D000236:Adenoma / Q000150:complications; D000328:Adult; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications*; D009377:Multiple Endocrine Neoplasia / Q000150:complications*; D009896:Optic Atrophy / Q000150:complications*; D010282:Parathyroid Neoplasms / Q000150:complications; D010911:Pituitary Neoplasms / Q000150:complications; D011388:Prolactin / Q000378:metabolism
D011388:Prolactin