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

Late onset adrenal insufficiency after adrenalectomy due to latent nonclassical 21-hydroxylase deficiency: A case report.
 

Author(s): Hiroyuki Hirai, Keisuke Kuwana, Yoshiro Kusano

Journal: Medicine (Baltimore). 2018 Aug;97(33):e11888.

 

Adrenal incidentaloma is sometimes complicated with 21-hydroxylase deficiency (21-OHD). Latent nonclassical 21-OHD in incidentaloma is difficult to diagnose. Although adrenalectomy in 21-OHD has been conducted when malignancy could not be excluded, adrenal insufficiency sometimes ...

Last Updated: 31 Dec 1969

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Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
 

Author(s): Eleni-Magdalini Kyritsi, Georgia Koltsida, Ioanna Farakla, Aikaterini Papanikolaou, Elena Critselis, Emilia Mantzou, Emmanouil Zoumakis, Gerasimos Kolaitis, George P Chrousos, Evangelia Charmandari

Journal: Hormones (Athens). 2017 Jan;16(1):42-53.

 

Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing ...

Last Updated: 31 Dec 1969

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11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
 

Author(s): Adina F Turcu, Ashwini Mallappa, Meredith S Elman, Nilo A Avila, Jamie Marko, Hamsini Rao, Alexander Tsodikov, Richard J Auchus, Deborah P Merke

Journal: J. Clin. Endocrinol. Metab.. 2017 08;102(8):2701-2710.

 

Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and predict long-term outcomes.

Last Updated: 31 Dec 1969

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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:

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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Androgen Reduction in Congenital Adrenal Hyperplasia
 

Status: Not yet recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 6 Jun 2018

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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: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 3 Aug 2017

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