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

Topcu, Vehap; ILGIN RUHİ, HATİCE; ŞIKLAR, ZEYNEP; KARABULUT, HALİL; BERBEROĞLU, MERİH; Hacihamdioglu, Bulent; Savas-Erdeve, Senay; AYCAN, ZEHRA; Peltek-Kendirci, Havva; Ocal, Gonul; Tukun, Fatma

doi:10.1515/jpem-2014-0500

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, Scopus)

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).