Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
MONDO:0015129
chronic primary adrenal insufficiency
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0005495
adrenal gland disorder
is_a
MONDO:0020040
46 XY differences of sex development
is_a
XY sex reversal-adrenal failure
exact
XY sex reversal-adrenal failure syndrome
exact
adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete
exact
adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
exact
cholesterol side-chain cleavage deficiency
exact
p450scc deficiency
exact