hrp0086fc12.3 | Neuroendocrinology | ESPE2016

Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome

Turan Ihsan , Hutchins B. Ian , Hacıhamdioglu Bulent , Ozbek Mehmet Nuri , Kotan Leman Damla , Ozkan Yusuf , Stoner Hudson , Cheng Paul J. , Gurbuz Fatih , Mengen Eda , Yuksel Bilgin , Wray Susan , Topaloglu Kemal

Background: GnRH neurons originate outside the CNS in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary–gonadal axis (HPG).Objective and hypotheses: We hypothesize that gene(s), whose products are important for pubertal development can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH)/...