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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 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
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
Jacobson JD et al.
Endocrinology, 2020
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem MM et al.
Endocrine, 2019
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency.
Kumar A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
Fénichel P et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
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
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
Nordenskjöld A et al.
American Journal of Medical Genetics, 1998
Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.
Hiort O et al.
European Journal of Pediatrics, 1996
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
Fernández-Cancio M et al.
Journal of Andrology, 0
Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
Cheng T et al.
Asian Journal of Andrology, 0