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

Date
2022
Author
Bas, Firdevs
Altunoglu, Umut
Toksoy, Guven
Karaman, Birsen
Avci, Sahin
Abali, Zehra Yavas
Poyrazoglu, Sukran
Aghayev, Agharza
Karaman, Volkan
Bundak, Ruveyde
Basaran, Seher
Darendeliler, Feyza
Akcan, Nese
Uyguner, Oya
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Abstract
Objective: Androgen insensivity syndrome (AIS) and 5 alpha-reductase deficiency (5 alpha-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 5 alpha-RD.
URI
http://hdl.handle.net/20.500.12627/183399
https://avesis.istanbul.edu.tr/api/publication/7a009f4a-9f3b-4611-80bd-4c0353561dd4/file
https://doi.org/10.4274/jcrpe.galenos.2022.2021-9-19
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