Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families


Demirbilek H., Ozbek M. N. , Demir K., KOTAN L. D. , Cesur Y., Dogan M. , ...More

CLINICAL ENDOCRINOLOGY, vol.82, no.3, pp.429-438, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1111/cen.12618
  • Title of Journal : CLINICAL ENDOCRINOLOGY
  • Page Numbers: pp.429-438

Abstract

ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism.