Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Synonyms: Classic 21-OHD CAH
A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period as well as hyperandrogenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?
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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.
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.
Adrenal Insufficiency United
Helping find resources and navigating the health system
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
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