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

• Hlavní autoři: Neşe Akcan (Autor), Oya Uyguner (Autor), Firdevs Baş (Autor), Umut Altunoğlu (Autor), Güven Toksoy (Autor), Birsen Karaman (Autor), Şahin Avcı (Autor), Zehra Yavaş Abalı (Autor), Şükran Poyrazoğlu (Autor), Agharza Aghayev (Autor), Volkan Karaman (Autor), Rüveyde Bundak (Autor), Seher Başaran (Autor), Feyza Darendeliler (Autor)
• Médium: Kniha
• Vydáno: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...