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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 156 free, full-text research articles on human participants. First 3 results:

[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

Go To URL
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

Go To URL
The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.
 

Author(s): Vivian Oliveira Moura-Massari, Flávia Siqueira Cunha, Larissa Garcia Gomes, Diogo Bugano Diniz Gomes, José Antônio Miguel Marcondes, Guiomar Madureira, Berenice Bilharinho de Mendonca, Tânia A Sartori Sanchez Bachega

Journal:

 

In the nonclassical form (NC), good correlation has been observed between genotypes and 17OH-progesterone (17-OHP) levels. However, this correlation was not identified with regard to the severity of hyperandrogenic manifestations, which could depend on interindividual variability ...

Last Updated: 6 Feb 2016

Go To URL

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 9 free, full-text review articles on human participants. First 3 results:

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

Go To URL
[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

Go To URL
Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
 

Author(s): Nicole Reisch, Wiebke Arlt, Nils Krone

Journal: Horm Res Paediatr. 2011 ;76(2):73-85.

 

Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence ...

Last Updated: 17 Aug 2011

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.
 

Status: Recruiting

Condition Summary: Adrenal Hyperplasia, Congenital; 21-hydroxylase Deficiency

 

Last Updated: 8 Dec 2015

Go to URL

Last Updated: 8 Dec 2008

Go to URL
Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Adrenal Hyperplasia, Congenital

 

Last Updated: 1 Jun 2009

Go to URL