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.
UCLouvain(MGD) Service de médecine interne générale - endocrinologie
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Donckier, J., Rosière, A., Heureux, E., & Michel, L. (2008). Diabetes mellitus as a primary manifestation of multiple endocrine neoplasia type 2B. Acta Chirurgica Belgica (Bilingual Edition), 108(6), 732-737. https://hdl.handle.net/2078.5/35786 (Original work published 2008)