Rare Disease Library

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XX difference of sex development induced by maternal-derived androgen

46,XX disorder of sex development induced by maternal-derived androgen · 46,XX DSD induced by maternal-derived androgen

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

46,XY difference of sex development

46,XY disorder of sex development · 46,XY DSD

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

46,XY difference of sex development induced by maternal exposure to endocrine disruptors

46,XY DSD induced by maternal-exposure to endocrine disruptors · 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Leydig cell hypoplasia due to LHB deficiency

46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency