Report of a family with two cases of MEN-IIa and one case of MEN-IIb

ABSTRACT

The multiple endocrine neoplasia MEN-IIb syndrome has been differentiated from MEN-IIa by the presence of various phenotypic features such as skeletal anomalies, Marfanoid habitus and mucosal neuromas, as well as the lack of parathyroid involvement. We report three members of a family [2 sisters and 1 brother] with characteristics of both syndromes. It tends to unify the MEN-11 syndromes as a single disorder with variable expressivity. All three cases had pheochromocytoma and thyroid carcinoma. Only one case had a Marfan-like appearance, mucosal neuromas and a parathyroid adenoma. Their mother expired with medullary carcinoma of the thyroid and another sister expired during parturition due to severe hypertension