Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations


AKKUŞ G. , KOTAN L. D. , Durmaz E., Mengen E., TURAN İ. , Ulubay A., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, no.2, pp.95-100, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.4274/jcrpe.3908
  • Title of Journal : JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Page Numbers: pp.95-100

Abstract

Objective: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management.