Associated Papers
Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.
Ramos L
Plos One, 2025
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E et al.
Endocrine Connections, 2023
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
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.
Xiao Q et al.
Nature Communications, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A et al.
Hormones (athens, Greece), 2018
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.
Deeb A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients.
Vija L et al.
Bmc Endocrine Disorders, 2014
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.
Fernández-Cancio M et al.
International Journal of Andrology, 2011
REMOVAL: Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2.
Sarfati J et al.
Annales D'endocrinologie, 2011
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Maimoun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Practical approach to steroid 5alpha-reductase type 2 deficiency.
Cheon CK
European Journal of Pediatrics, 2011
Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.
Maimoun L et al.
International Journal of Andrology, 2010
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.
Sahakitrungruang T et al.
Fertility and Sterility, 2008
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
Vilchis F et al.
Journal of Human Genetics, 2008
Early diagnosis of 5alpha-reductase deficiency in newborns.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2007
[Steroid 5alpha-reductase deficiency].
Tohda A
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Mutation analysis of five candidate genes in Chinese patients with hypospadias.
Wang Y et al.
European Journal of Human Genetics : Ejhg, 2004
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
Fernández-Cancio M et al.
Hormone Research, 2004
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F et al.
Clinical Endocrinology, 2000
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.
Can S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
Thigpen AE et al.
The Journal of Clinical Investigation, 1992
Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
Vilchis F et al.
Journal of Andrology, 0