Severe obesity, hypogonadotropic hypogonadism and a WDR11 gene mutation

Abstract

Abstract Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by gonadotropin- releasing hormone (GnRH) deficiency. A number of variants were proved to be the pathogenesis gene of CHH, and a proportion of the patients of CHH were accompanied with severe early-onset obesity. We report on one adult male patient who manifested as CHH caused by WDR11 gene deletion mutation and severe obesity related to SH2B1 gene missense mutation, as well as early onset nasopharyngeal carcinoma (NPC). Our case emphasizes the importance of recognizing the heterogeneous underling diseases of the symptoms of morbid obesity and hypogonadism.