Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development

Topcu V., ILGIN RUHİ H., ŞIKLAR Z., KARABULUT H. G., BERBEROĞLU M., Hacihamdioglu B., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.28, no.11-12, pp.1257-1263, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11-12
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0500
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1257-1263
  • Keywords: 46,XY disorders of sex development (DSD), androgen insensitivity syndrome (AIS), androgen receptor (AR), sequence analysis, LIGAND-BINDING DOMAIN, INSENSITIVITY SYNDROME, MOLECULAR ANALYSIS, DEFICIENCY, DIAGNOSIS, AR, DIHYDROTESTOSTERONE, TESTOSTERONE, ACTIVATION, VARIANTS
  • Ankara University Affiliated: Yes

Abstract

Aim: Androgen receptor (AR) gene mutations are the leading cause of 46, XY disorders of sex development (DSD) and are associated with varying degrees of androgen insensitivity. The aim of this study is to investigate AR gene mutations in 46, XY DSD patients with normal testosterone secretion, either normal or high testosterone/dihydrotestosterone (T/DHT) ratio and normal SRD5A2 gene analysis, collectively, suggestive of androgen insensitivity syndrome (AIS).