Additional Disease Briefs


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

Also known as: 17 Beta HSD3 deficiency, 17 alpha KSR deficiency, 17 alpha ketosteroid reductase deficiency of testis, 17 beta HSD3 deficiency, 17 beta hydroxysteroid dehydrogenase III deficiency, 17-BETA hydroxysteroid dehydrogenase III deficiency, 17-Beta hydroxysteroid dehydrogenase 3 deficiency, 17-KSR deficiency, 17-beta hydroxysteroid dehydrogenase 3 deficiency, 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17-ketoreductase deficiency, 17-ketosteroid reductase deficiency of testis, 17-ketosteroidreductase deficiency, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, Male pseudoherma-phroditism with gynecomastia, Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, neutral 17 beta hydroxysteroid oxidoreductase deficiency, neutral 17-Beta-hydroxysteroid oxidoreductase deficiency, polycystic ovarian disease due to 17-ketosteroid reductase deficiency, polycystic ovary syndrome due to 17-ketosteroid reductase deficiency, pseudohermaphroditism, Male, with gynecomastia


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

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






46,XY sex reversal 1

Also known as: 46,XY gonadal dysgenesis, complete, SRY-related, 46,XY sex reversal 1, 46,XY sex reversal type 1, 46,XY sex reversal, SRY-related, 46,XY true hermaphroditism, SRY-related, 46XY sex reversal 1, Y-linked, SRXY1


46,XY sex reversal 10

Also known as: 46,XY SEX reversal 10, 46,XY Sex reversal type 10, 46,XY sex reversal 10, 46XY sex reversal 10, SRXY10, chromosome 17Q24 deletion syndrome


46,XY sex reversal 11

Also known as: 46, XY sex reversal 11, ETRS, SRXY11, TRS, XY gonadal agenesis syndrome, anorchia, familial, embryonic testicular regression syndrome, testicular regression syndrome, testicular regression, embryonic, vanishing testes syndrome, vanishing testis syndrome