Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Findings
No curated finding names Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 CYP11A1 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.
Definition from the Mondo Disease Ontology (MONDO:0013400), read 2026-09-29. CC BY 4.0.
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating cholesterol concentrationHPOHP:0003107
- Very frequent (80% to 99% of cases)
- Abnormal sex determinationHPOHP:0012244
- Very frequent (80% to 99% of cases)
- Abnormal urine potassium concentrationHPOHP:0012598
- Very frequent (80% to 99% of cases)
- Abnormality of prenatal development or birthHPOHP:0001197
- Very frequent (80% to 99% of cases)
- Abnormality of the Leydig cellsHPOHP:0010789
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP11A1HGNC:2590
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Also called
- adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or completeadrenal insufficiency, congenital, with 46XY sex reversal, partial or completecholesterol side-chain cleavage deficiencyp450scc deficiencyXY sex reversal-adrenal failureXY sex reversal-adrenal failure syndrome