/Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Rare Disease

MONDO:0013400

Also Known As

XY sex reversal-adrenal failureXY sex reversal-adrenal failure syndromeadrenal insufficiency, congenital, with 46,XY SEX reversal, partial or completeadrenal insufficiency, congenital, with 46XY sex reversal, partial or completecholesterol side-chain cleavage deficiencyp450scc deficiency46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome

Definition

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.