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