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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0590
  • Journal Name: Journal of pediatric endocrinology & metabolism : JPEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.771-780
  • Keywords: hypergonadotropic hypogonadism, hypogonadotropic hypogonadism, novel variant, whole-exome sequencing, ISOLATED HYPOGONADOTROPIC HYPOGONADISM, KALLMANN-SYNDROME, MUTATIONS, PUBERTY, DEFICIENCY, DUSP6
  • Karadeniz Technical University Affiliated: Yes


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.