Associated Papers
The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature.
Balagamage C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.
Kumar A et al.
Archives of Sexual Behavior, 2025
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y et al.
Asian Journal of Andrology, 2025
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 2024
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Zhang W et al.
The Journal of Steroid Biochemistry and Molecular Biology, 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
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
Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development.
María Guadalupe OL et al.
Frontiers in Genetics, 2021
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Fan L et al.
Molecular Genetics & Genomic Medicine, 2020
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
Avendaño A et al.
Annals of Human Genetics, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
Han B et al.
Biomed Research International, 2020
Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis.
Kocova M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Ahmadifard M et al.
Andrologia, 2019
Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Jia W et al.
Endocrine Journal, 2018
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Byers HM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population.
Rahimi M et al.
Journal of Endocrinological Investigation, 2017
Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
Ittiwut C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.
Chávez B et al.
Molecular Genetics & Genomic Medicine, 2014
Ambiguous genitalia: what prenatal genetic testing is practical?
Adam MP et al.
American Journal of Medical Genetics. Part A, 2012
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
Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.
Maimoun L et al.
Fertility and Sterility, 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
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Nie M et al.
Molecular Human Reproduction, 2011
A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.
Zhang M et al.
Hormone Research in Paediatrics, 2011
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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
Choice of gender in 5alpha-reductase deficiency: a moving target.
Houk CP et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
Skordis N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.
Hafez M et al.
Hormone Research, 2003
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
Chávez B et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F et al.
Clinical Endocrinology, 2000
Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency.
Canto P et al.
Clinical Endocrinology, 1997
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
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
Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
Skordis N et al.
Hormones (athens, Greece), 0
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Cheng T et al.
Asian Journal of Andrology, 0