title: [Multiple endocrine neoplasias in 3 generations].
abstract: Typical in MEA IIb is a combination of medullary carcinoma of the thyroid gland and a pheochromocytoma with neurocutaneous and skeletal anomalies and a hyperplasia of the sympathetic nervous system of the GI tract with megacolon. Two patients of a family with MEA II are described. The family history reveals 1) an autosomal inheritance with high penetrance, 2) a changing pattern of anomalies in different generations, 3) no marfanoid traits as typical in MEA IIb, 4) only males affected by megacolon. This may be an uncommon variation or an additional type: IIc. Further investigation is required.
mesh_terms: D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000002:abnormalities; D005500:Follow-Up Studies; D006627:Hirschsprung Disease / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010375:Pedigree
vernacular_title: Multiple endokrine Neoplasien (MEN) bei drei Generationen.