21-Hydroxylase Deficiency

Common Name(s)

21-Hydroxylase Deficiency

21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2).  Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "21-Hydroxylase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "21-Hydroxylase Deficiency" returned 155 free, full-text research articles on human participants. First 3 results:

Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
 

Author(s): Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada

Journal: Endocr. J.. 2016 Nov;63(11):983-990.

 

21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. In addition to the clinical problems caused by adrenal insufficiency and androgen excess, a risk for obesity and metabolic syndrome during young adulthood is a major ramification of the disease. ...

Last Updated: 22 Aug 2016

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[Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].
 

Author(s): Jing Li, Yan-Fei Luo, Mireguli Maimaiti

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Feb;18(2):141-6.

 

To investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deficiency (21-OHD) in Xinjiang, China.

Last Updated: 23 Feb 2016

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Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency.
 

Author(s): Adina F Turcu, Aya T Nanba, Robert Chomic, Sunil K Upadhyay, Thomas J Giordano, James J Shields, Deborah P Merke, William E Rainey, Richard J Auchus

Journal: Eur. J. Endocrinol.. 2016 May;174(5):601-9.

 

To comprehensively characterize androgens and androgen precursors in classic 21-hydroxylase deficiency (21OHD) and to gain insights into the mechanisms of their formation.

Last Updated: 28 Apr 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "21-Hydroxylase Deficiency" returned 8 free, full-text review articles on human participants. First 3 results:

MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
 

Author(s): Anne Bachelot, Virginie Grouthier, Carine Courtillot, Jérôme Dulon, Philippe Touraine

Journal: Eur. J. Endocrinol.. 2017 Apr;176(4):R167-R181.

 

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse ...

Last Updated: 24 Jan 2017

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Glucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiency.
 

Author(s): Annamaria Ventura, Giacomina Brunetti, Silvia Colucci, Angela Oranger, Filomena Ladisa, Luciano Cavallo, Maria Grano, Maria Felicia Faienza

Journal: Biomed Res Int. 2013 ;2013():250462.

 

21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), resulting from deletions or mutations of the P450 21-hydroxylase gene (CYP21A2). Children with 21-OHD need chronic glucocorticoid (cGC) therapy, both to replace congenital deficit ...

Last Updated: 13 Mar 2013

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[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].
 

Author(s): Alexandra Vieira, Sandra Paiva, Carla Baptista, Luísa Ruas, Júlia Silva, João Gonçalves, Francisco Carrilho, Manuela Carvalheiro

Journal: Acta Med Port. ;24(1):99-110.

 

The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be presented in two clinical ...

Last Updated: 15 Jun 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Adrenal Hyperplasia, Congenital

 

Last Updated: 20 Dec 2016

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Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1
 

Status: Not yet recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 7 Sep 2016

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COrticosteroid in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 15 Sep 2015

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