CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism


TURAN İ. , Hutchins B. I. , Hacihamdioglu B., KOTAN L. D. , GÜRBÜZ F. , Ulubay A., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.102, no.6, pp.1816-1825, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 102 Issue: 6
  • Publication Date: 2017
  • Doi Number: 10.1210/jc.2016-3391
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.1816-1825

Abstract

Context: Gonadotropin-releasing hormone neurons originate outside the central nervous systemin the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons.