46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.

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Aliases

• 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• 46,XY DSD due to 5-alpha-reductase 2 deficiency
• 5 Alpha steroid reductase 2 deficiency
• 5-alpha reductase deficiency
• familial incomplete Male pseudohermaphroditism, type 2
• Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
• Male pseudohermaphroditism due to 5-Alpha-reductase deficiency
• micropenis
• PPSH
• Pseudovaginal perineoscrotal hypospadias
• pseudovaginal perineoscrotal hypospadias
• Steroid 5-alpha-reductase deficiency
• steroid 5-alpha-reductase deficiency