Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency

Arman A., Dündar B. N., Cetinkaya E., Erzaim N., Buyukgebiz A.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, ss.202-208, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/jcrpe.1518
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.202-208
  • Anahtar Kelimeler: IGHD, GHRHR gene, short stature, ISOLATED GH DEFICIENCY, GHRHR GENE, SPLICE MUTATION, SHORT STATURE, PREVALENCE, POLYMORPHISM, GENERATION, SECRETION, DWARFISM, SIBLINGS
  • Marmara Üniversitesi Adresli: Evet

Özet

Objective: Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD.