Rare Disease Library

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

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

46,XX difference of sex development

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

46,XY difference of sex development

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

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

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

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 defect in testosterone metabolism by peripheral tissue

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

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 isolated 17,20-lyase deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

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-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

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

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

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Leydig cell hypoplasia

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

Leydig cell hypoplasia due to complete LH resistance

46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance

Leydig cell hypoplasia due to LHB deficiency

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

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

Syndrome with 46,XY difference of sex development

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