hrp0084p3-993 | Gonads | ESPE2015

The Effect of Aromatase Inhibitor in a Pubertal Patient with Aromatase Excess Syndrome

Shihara Daziou , Sato Hidetoshi , Ogawa Yohei , Miyado Mami , Fukami Maki

Background: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by the overexpression of CYP19A1 at 15q21. Patients with AEXS manifest various clinical features associated with oestrogen excess; gynecomastia, hypogonadotropic hypogonadism, and advanced bone age are the most salient features in this condition.Objective and hypotheses: The primordial treatment of the gynecomastia in patients with AEXS is surgical mastecto...

hrp0092fc3.1 | Multi-system Endocrine Disorders | ESPE2019

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report

Fukami Maki , Miyado Mami , Takada Shuji , Sasaki Goro , Nagasaki Keisuke , Masunaga Youhei , Saitsu Hirotomo , Ogata Tsutomu

Background: The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-Gsα) mediates signal transductions of multiple G-protein-coupled receptors including arginine vasopressin (AVP) receptor 2 (AVPR2). To date, various germline-derived loss-of-function variants of maternal and paternal origin have been found in pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism respectively, and specific somatic gain...