46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

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Synonyms: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | XY sex reversal-adrenal failure

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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