21-hydroxylase deficiency

What causes 21-hydroxylase deficiency?

21-hydroxylase deficiency is caused by genetic changes (mutations) in the _CYP21A2 _gene.

Last updated on 05-01-20

Newborn Screening

Congenital adrenal hyperplasia

The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the links below to view details for the three types of congenital adrenal hyperplasia due to 21-hydroxylase.
Congenital adrenal hyperplasia (non-classical)
Congenital adrenal hyperplasia (salt- wasting)
Congenital adrenal hyperplasia (simple virilizing)

Last updated on 04-27-20

Name: Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation 2414 Morris Ave, Suite 110
Union, NJ, 07083 , United States
Toll Free: 866-227-3737 Email: contact@caresfoundation.org Url: http://www.caresfoundation.org
Name: Adrenal Insufficiency United Toll Free: 1-855-AIUnite (248-6483) Email: contact@aiunited.org Url: http://aiunited.org/
Name: National Adrenal Diseases Foundation NADF P.O. Box 566
Lake Zurich, IL, 60047,
Phone: +1-(847) 726-9010 Email: nadfmail@nadf.us Url: https://www.nadf.us
Merke DP & Nieman LK. Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency UpToDate. September 16, 2014; Reference Link Concolino P, Costella A. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: A comprehensive focus on 233 pathogenic variants of CYP21A2 gene Mol Diagn Ther. Jun 2018; 22(3). 261-280. Reference Link Parsa AA, New MI. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia Jl Steroid Biochem Mol Biol. Jan 2017; 165(pt A). 2-11. Reference Link Nimkarn A, Gangishetti PK, Yau M, New MI. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia GeneReviews. Updated Feb 4, 2016; Reference Link Congenital Adrenal Hyperplasia National Organization of Rare Disorders (NORD). Updated 2018; Reference Link Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP et al.. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline Jl Clin Endo Metab. Nov 2018; 103(11). 4043-4088. Reference Link

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