Associated Papers
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
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
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
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
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
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
Structure of human steroid 5α-reductase 2 with anti-androgen drug finasteride.
Xiao Q et al.
Research Square, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
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
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Zhang W et al.
Molecular Genetics & Genomic Medicine, 2019
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
[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].
Song YN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review.
Bertelloni S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A et al.
Hormones (athens, Greece), 2018
Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.
Yuan S et al.
Steroids, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Reprint of "Steroid 5α-reductase 2 deficiency".
Mendonca BB et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Steroid 5α-reductase 2 deficiency.
Mendonca BB et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2016
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
Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
Shabir I et al.
Andrology, 2015
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
Cheng J et al.
Clinical Endocrinology, 2015
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Laino L et al.
Endocrine Connections, 2014
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.
Veiga-Junior NN et al.
International Journal of Endocrinology, 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
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M et al.
European Journal of Endocrinology, 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
Practical approach to steroid 5alpha-reductase type 2 deficiency.
Cheon CK
European Journal of Pediatrics, 2011
Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.
Matsubara K et al.
Fertility and Sterility, 2010
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
Ko JM et al.
Hormone Research in Paediatrics, 2010
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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
Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.
Stuchi-Perez EG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
Hackel C et al.
Journal of Molecular Medicine (berlin, Germany), 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
[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].
Hackel C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
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
Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.
Mazen I et al.
Clinical Endocrinology, 2003
A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.
Mazen I et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2003
A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.
Hafez M et al.
Hormone Research, 2003
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F et al.
Clinical Endocrinology, 2000