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🔗 CustomizeMedical Overview of Congenital Adrenal Insufficiency With 46, XY Sex Reversal OR 46,XY Disorder Of Sex Development-Adrenal Insufficiency Due To CYP11A1 Deficiency
Sources citedA 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.
Classification & codes: GARD 0017033 · Orphanet ORPHA:168558 · OMIM 613743 · ICD-10 E25.0
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
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Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.