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
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
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Robevska G et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 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
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H et al.
Frontiers in Genetics, 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
5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.
Cocchetti C et al.
Journal of Endocrinological Investigation, 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
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A et al.
Hormones (athens, Greece), 2018
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
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
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
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
Nicoletti A et al.
Clinical Endocrinology, 2005
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
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Wigley WC et al.
Biochemistry, 1994
Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.
Baldinotti F et al.
Journal of Andrology, 0
Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
Parlak M et al.
Annals of Saudi Medicine, 0