Title : Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency.

Pub. Date : 2019

PMID : 32894851






3 Functional Relationships(s)
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1 The aim of this study was to assess the prevalence of pathogenic variants in the SRD5A2 gene in children with 46,XY disorders of sex development (DSD) with normal to high serum testosterone levels and absence of Mullerian structures on imaging and to evaluate the genotype-phenotype correlation. Testosterone steroid 5 alpha-reductase 2 Homo sapiens
2 The hCG stimulated testosterone: dihydrotestosterone (T:DHT) ratio was elevated in all patients with pathogenic variants in SRD5A2 and in nearly 90% of those without pathogenic variants in SRD5A2 in whom this was assessed. Testosterone steroid 5 alpha-reductase 2 Homo sapiens
3 The hCG stimulated testosterone: dihydrotestosterone (T:DHT) ratio was elevated in all patients with pathogenic variants in SRD5A2 and in nearly 90% of those without pathogenic variants in SRD5A2 in whom this was assessed. Testosterone steroid 5 alpha-reductase 2 Homo sapiens