hrp0086fc12.4 | Neuroendocrinology | ESPE2016

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Kotan Leman Damla , Cooper Charlton , Darcan Sukran , Carr Ian , Ozen Samim , Yan Yi , Hamedani Mohammad K. , Gurbuz Fatih , Mengen Eda , Turan Ihsan , Ulubay Ayca , Akkus Gamze , Yuksel Bilgin , Leygue Etienne , Topaloglu Kemal

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...