Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Synonyms: CAH due to 11-beta-hydroxylase deficiency | CYP11B1 deficiency
A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency hyperandrogenism hypertension and virilization in females.
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 2024
Newly diagnosed with
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.