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., ...Daha Fazla

Journal of pediatric endocrinology & metabolism : JPEM, cilt.34, ss.771-780, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0590
  • Dergi Adı: Journal of pediatric endocrinology & metabolism : JPEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.771-780
  • Anahtar Kelimeler: hypergonadotropic hypogonadism, hypogonadotropic hypogonadism, novel variant, whole-exome sequencing, ISOLATED HYPOGONADOTROPIC HYPOGONADISM, KALLMANN-SYNDROME, MUTATIONS, PUBERTY, DEFICIENCY, DUSP6
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.