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., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, sa.11-12, ss.1257-1263, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 11-12
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0500
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1257-1263
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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).