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 April 2026
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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency?
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Advocacy Organizations
Adrenal Insufficiency united
Helping find resources and navigating the health system
CARES Foundation (Congenital Adrenal hyperplasia Research, Education & Support Foundation )
CARES Foundation leads in the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research.
Child And Youth Care
To ensure every rare disease patient has access to quality and affordable care, treatment services in order to reduce morbidity and mortality.
Global Adrenal Testing Consortium
The Global Adrenal Testing Consortium is a patient-led nonprofit transforming adrenal health through open, collaborative research. We unite patients, clinicians, and researchers to redefine cortisol testing—prioritizing accuracy, accessibility, and community-driven innovation. By setting transparent standards, advocating for FDA approval, and ensuring global access, we empower the adrenal insuffic
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Clinical Trials
For a list of clinical trials in this disease area, please click here.