Associated Papers
[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene].
Kalinchenko NY et al.
Problemy Endokrinologii, 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
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
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L et al.
Italian Journal of Pediatrics, 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
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.
Joodi M et al.
Journal of Cellular Physiology, 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
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
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Andonova S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
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
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M et al.
European Journal of Endocrinology, 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
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
Genetic pathway of external genitalia formation and molecular etiology of hypospadias.
Kojima Y et al.
Journal of Pediatric Urology, 2010
[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].
Hackel C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
Boehmer AL et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias.
Silver RI et al.
The Journal of Urology, 1999
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
Nordenskjöld A et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.
Forti G et al.
Clinical Endocrinology, 1996
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development.
Li SP et al.
Asian Journal of Andrology, 0