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

Mitotane for 21-hydroxylase deficiency in an infertile man.
 

Author(s): Hélène Bry-Gauillard, Alejandra Cartes, Jacques Young

Journal: N. Engl. J. Med.. 2014 Nov;371(21):2042-4.

 

Last Updated: 21 Nov 2014

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A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.
 

Author(s): Masayuki Hayashi, Yuko Kataoka, Yoshihisa Sugimura, Fumiko Kato, Maki Fukami, Tsutomu Ogata, Keiko Homma, Tomonobu Hasegawa, Yutaka Oiso, Hironobu Sasano, Hiroshi Tanaka

Journal: Tohoku J. Exp. Med.. 2013 ;231(2):75-84.

 

The steroidogenic enzyme 21-hydroxylase is necessary for the synthesis of both glucocorticoids and mineralocorticoids. 21-hydroxylase is a cytochrome P-450 enzyme and is encoded by the gene CYP21A2. Here we report a 68-year-old phenotypically 'male' but genetically female patient ...

Last Updated: 30 Sep 2013

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Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
 

Author(s): Anbezhil Subbarayan, Mehul T Dattani, Catherine J Peters, Peter C Hindmarsh

Journal: Clin. Endocrinol. (Oxf). 2014 Apr;80(4):471-7.

 

The prevalence of cardiovascular risk factors in congenital adrenal hyperplasia (CAH) varies widely. In the light of recent changes in treatment regimens, we have reassessed the prevalence of these risk factors in our current cohort of patients with CAH due to P450c21 deficiency.

Last Updated: 10 Mar 2014

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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 7 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

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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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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

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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: 3 Jul 2014

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Last Updated: 8 Dec 2008

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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

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