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Article

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

Journal of clinical research in pediatric endocrinology - 7 Jun 2022

Akcan Neşe, Uyguner Oya, Baş Firdevs, Altunoğlu Umut, Toksoy Güven, Karaman Birsen, Avcı Şahin, Yavaş Abalı Zehra, Poyrazoğlu Şükran, Aghayev Agharza, Karaman Volkan, Bundak Rüveyde, Başaran Seher, Darendeliler Feyza

Abstract excerpt

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 was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD. Methods:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35135181
DOI: 10.4274/jcrpe.galenos.2022.2021-9-19
PMCID: PMC9176093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSDPMID 35135181Read ↗

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