classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
MONDO:0005039
reproductive system disorder
is_a
MONDO:0018479
congenital adrenal hyperplasia
is_a
21 hydroxylase deficiency
related
21-OHD
exact
CYP21 deficiency
related
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
related
classic 21-OHD CAH
exact
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
exact
congenital adrenal hyperplasia due to 21-hydroxylase deficiency
related