Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Neşe Akcan, Zehra Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendelıler
Abstract
Androgen insensivity syndrome and 5-reductase deficiency are the most common causes of 46,XY disorders of sexual development. They can present as indistinguishable phenotypes that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period.
Topics & Concepts
MedicineDihydrotestosteroneAndrogen receptorTestosterone (patch)Internal medicinePhenotypeAndrogenHormoneEndocrinologyEndocrine systemPediatricsGastroenterologyGynecologyGeneGeneticsCancerBiologyProstate cancerSexual Differentiation and DisordersHormonal and reproductive studiesPediatric Urology and Nephrology Studies