Searchable abstracts of presentations at key conferences in endocrinology

ea0063p312 | Reproductive Endocrinology 1 | ECE2019

Normosmic hypogonadotropic hypogonadism associated with a novel TACR3 mutation

Valdes-Socin Hernan , Libioulle Cecile , Lebrethon Marie Christine , Corman Vinciane , Debray Francois Guillaume , Dideberg Vinciane , Beckers Albert

Introduction: Neurokinin B (NKB) is a neurotransmitter, regulating GnRH. NKB activates its receptor TACR3. Recessive mutations of TACR3 are associated with a phenotype of normosmic hypogonadism.Case report: A 17 years old man born in Turkey, present with pubertal delay. He is treated 3 years with testosterone and he is reevaluated without treatment. He is 1.79 m and 1.85 arm span, testicular volume: 3 and 4 ml. He has no olfactory troubles. Testosterone ...