Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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Synonyms: CAH due to 17-alpha-hydroxylase deficiency | Combined 17-hydroxylase/17,20-lyase deficiency

A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability from presenting in early infancy to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.

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 May 2024

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