Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

• मुख्य लेखकों: Neşe Akcan (लेखक), Oya Uyguner (लेखक), Firdevs Baş (लेखक), Umut Altunoğlu (लेखक), Güven Toksoy (लेखक), Birsen Karaman (लेखक), Şahin Avcı (लेखक), Zehra Yavaş Abalı (लेखक), Şükran Poyrazoğlu (लेखक), Agharza Aghayev (लेखक), Volkan Karaman (लेखक), Rüveyde Bundak (लेखक), Seher Başaran (लेखक), Feyza Darendeliler (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim...