46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0020040
46 XY differences of sex development
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3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency
exact
46,XY DSD due to 5-alpha-reductase 2 deficiency
exact
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
exact
5 Alpha steroid reductase 2 deficiency
exact
5-alpha reductase deficiency
related
Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
exact
PPSH
related
pseudovaginal perineoscrotal hypospadias
exact
steroid 5-alpha-reductase deficiency
exact