Associated Papers
5-Alpha Reductase Deficiency - An Uncommon Disorder of Sexual Development: A Case Study of Four Turkish Patients within a Family.
Örs A et al.
Current Gene Therapy, 2025
An evaluation of cases of disorders of sex development related to SRD5A2.
Celiloglu C et al.
Endocrine, 2025
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Seo J et al.
International Journal of Molecular Sciences, 2023
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
Akcan N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Arya S et al.
European Journal of Endocrinology, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.
Abacı A et al.
Journal of Endocrinological Investigation, 2019
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
Eren E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
Simsek E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
A novel mutation of 5alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment.
Savas Erdeve S et al.
European Journal of Pediatrics, 2010