Diabetes mellitus as a primary manifestation of multiple endocrine neoplasia type 2B.
A 22-year-old-man presenting with diabetes mellitus was found to suffer from multiple endocrine neoplasia type 2B (MEN B). The characteristic phenotype including mucosal neuromas, musculoskeletal abnormalities and a marfanoid habitus led us to suspect this diagnosis, which was confirmed by the genetic analysis showing the typical mutation in the RET proto-oncogene at codon 918. Subsequently, diagnoses of bilateral phaeochromocytoma and medullary thyroid carcinoma were made. The patient underwent first a laparoscopic removal of bilateral phaeochromocytoma and a radical thyroidectomy three months later. Both operations were uneventful. After operation, diabetes resolved, an effect partly explainable by an improvement of insulin sensitivity. Thus, clinicians should be aware of a diagnosis of MEN 2B in a young patient presenting with diabetes, a typical phenotype, symptoms of phaeochromocytoma or a nodule in the thyroid.
Donckier
J E
JE
Department of Internal Medicine and Endocrinology, University Hospital of Mont-Godinne, Université Catholique de Louvain, Yvoir, Belgium. julian.donckier@uclouvain.be
Rosière
A
A
Heureux
E
E
Michel
L
L
D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D000328:Adult; D003920:Diabetes Mellitus / Q000209:etiology* / Q000503:physiopathology; D043963:Diverticulosis, Colonic / Q000150:complications; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery; D000090063:Proto-Oncogene Mas; D016606:Thyroid Nodule / Q000601:surgery; D013965:Thyroidectomy