A Case with Laron Syndrome

Özgen İ. T., ÖZGEN İ. T., Kutlu E., Kutlu E., CESUR Y., Cesur Y., ...More

BEZMIALEM SCIENCE, vol.7, no.3, pp.251-254, 2019 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.14235/bas.galenos.2018.2385
  • Journal Name: BEZMIALEM SCIENCE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.251-254
  • Istanbul University Affiliated: No

Abstract

Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH and low insulin-like growth factor-1 (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported.