11-Beta-Hydroxylase Deficiency

Common Name(s)

11-Beta-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.

Females with the non-classic form of 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth and irregular menstruation. Males with the non-classic form do not typically have any signs or symptoms except for short stature. High blood pressure is not a feature of the non-classic form.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "11-Beta-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 "11-Beta-Hydroxylase Deficiency" returned 9 free, full-text research articles on human participants. First 3 results:

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X.
 

Author(s): Audrey Mary Matallana-Rhoades, Juan David Corredor-Castro, Francisco Javier Bonilla-Escobar, Bony Valentina Mecias-Cruz, Liliana Mejia de Beldjena

Journal:

 

It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase.

Last Updated: 8 Nov 2016

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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
 

Author(s): Soara Menabò, Seher Polat, Lilia Baldazzi, Alexandra E Kulle, Paul-Martin Holterhus, Joachim Grötzinger, Flaminia Fanelli, Antonio Balsamo, Felix G Riepe

Journal: Eur. J. Hum. Genet.. 2014 May;22(5):610-6.

 

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one ...

Last Updated: 17 Apr 2014

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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
 

Author(s): Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T Rose, Rainer Hampel, Marcus Quinkler, Gerard S Conway, Lidia Castro-Feijóo, David Araujo-Vilar, Manuel Pombo, Fernando Dominguez, Emma L Williams, Trevor R Cole, Jeremy M Kirk, Elke Kaminsky, Gill Rumsby, Wiebke Arlt, Nils Krone

Journal: J. Clin. Endocrinol. Metab.. 2010 Feb;95(2):779-88.

 

Steroid 11beta-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.

Last Updated: 5 Feb 2010

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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 "11-Beta-Hydroxylase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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