Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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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. 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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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

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Advocacy Organizations

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.

The National Adrenal Diseases Foundation

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life. Our goals are: To stop death from undiagnosed Addison’s disease. To improve life quality of those who suffer from adrenal disease. To promote the study of adrenal disease to improve treatment and find cures.

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Clinical Trials

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