Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.

Turkyilmaz A. , Cayir A., Yarali O., Kurnaz E., Kartal Baykan E., Arslan Ates E., ...More

Journal of pediatric endocrinology & metabolism : JPEM, vol.34, pp.771-780, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0590
  • Title of Journal : Journal of pediatric endocrinology & metabolism : JPEM
  • Page Numbers: pp.771-780
  • Keywords: hypergonadotropic hypogonadism, hypogonadotropic hypogonadism, novel variant, whole-exome sequencing, ISOLATED HYPOGONADOTROPIC HYPOGONADISM, KALLMANN-SYNDROME, MUTATIONS, PUBERTY, DEFICIENCY, DUSP6


Objectives: Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism (HH) cases with no chromosomal anomalies. The aim of the present study is to investigate the underlying molecular genetic etiology and the genotype-phenotype relationship of a series of patients with Hh and HH.