CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism


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

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.102, ss.1816-1825, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 102 Konu: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1210/jc.2016-3391
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.1816-1825

Özet

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.