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
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Batista RL et al.
The Application of Clinical Genetics, 2020
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Arboleda VA et al.
Clinical Genetics, 2013
Puberty reveals a familial disorder of sex development.
Annamalai AK et al.
Endocrine, 2012
Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
Sahu R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
Anwar R et al.
Molecular Pathology : Mp, 1997
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