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

MONDO:0013400

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.

Also known as: XY sex reversal-adrenal failure, XY sex reversal-adrenal failure syndrome, adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete, adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, cholesterol side-chain cleavage deficiency, p450scc deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome

16 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Endocrine system disorder (61) Human disease (14) Reproductive system disorder (13) Adrenal gland disorder (8) Developmental defect during embryogenesis (7) Disorder of sexual differentiation (5) 46,XY disorder of sex development (2) Disease of genetic or genomic mechanism (2)
Trials to join now! 10 Not yet recruiting 1 Not yet finished but already full! 1 Completed 4
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