congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
MONDO:0005039
reproductive system disorder
is_a
MONDO:0018479
congenital adrenal hyperplasia
is_a
3-beta HSD deficiency
exact
3b-hydroxysteroid dehydrogenase deficiency
related
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
exact
HSD3B deficiency
related
adrenal hyperplasia II
related
type II 3-beta-hydroxysteroid dehydrogenase deficiency
related