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...

hrp0092p2-217 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Effect of Testosterone Enanthate Therapy on Adult Height, Genital Maturation, and Bone Mineral Density in Children and Adolescents with Male Hypogonadotropic Hypogonadism

Shibata Hironori , Ishii Tomohiro , Hori Naoaki , Sasaki Goro , Kamimaki Tsutomu , Anzo Makoto , Tamai Shinya , Sato Seiji , Matsuo Nobutake , Hasegawa Tomonobu

Background: Testosterone enanthate (TE) therapy was established for children and adolescents with male hypogonadotropic hypogonadism (c/a MHH). However, the effect of TE therapy on adult height (AH), genital maturation, and bone mineral density (BMD) in c/a MHH has not been described well.Objective: To assess the effect of TE therapy in c/a MHH on the achievement of genetic height potential, pubertal development, and bon...