Congenital adrenal hyperplasia

Common Name(s)

Congenital adrenal hyperplasia, Adrenogenital syndrome

Adrenogenital syndrome, also called congenital adrenal hyperplasia (CAH), is a group of genetic disorders. These conditions cause various abnormalities in the adrenal glands and a person’s hormones, which are a chemical produced in the adrenal glands and used to send signals throughout the body. In these conditions, some hormones are unable to be produced and some are also overproduced. This can result in high blood pressure and electrolyte abnormalities in infants born with this condition. It can also cause abnormal genitalia development in both males and females. Patients are usually diagnosed with these conditions at birth or when delayed puberty is apparent. These conditions can be controlled using steroid replacements, although underdevelopment of male genitalia is often permanent and requires specialist involvement.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital adrenal hyperplasia" for support, advocacy or research.

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital adrenal hyperplasia" for support, advocacy or research.

Logo
National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

View Details

 

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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 "Congenital adrenal hyperplasia" returned 338 free, full-text research articles on human participants. First 3 results:

Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
 

Author(s): Chunxue Wang, Pradeep S Pallan, Wei Zhang, Li Lei, Francis K Yoshimoto, Michael R Waterman, Martin Egli, F Peter Guengerich

Journal: J. Biol. Chem.. 2017 Jun;292(26):10767-10778.

 

Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxyprogesterone (17α-OH-progesterone) to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously ...

Last Updated: 25 May 2017

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A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
 

Author(s): Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu

Journal: Medicine (Baltimore). 2017 May;96(21):e6994.

 

Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, ...

Last Updated: 24 May 2017

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Impact of food, alcohol and pH on modified-release hydrocortisone developed to treat congenital adrenal hyperplasia.
 

Author(s): Nayananjani Karunasena, Daniel N Margetson, Greg Neal, Martin J Whitaker, Richard Jm Ross

Journal: Eur. J. Endocrinol.. 2017 Apr;176(4):405-411.

 

We developed a modified-release hydrocortisone, Chronocort, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption, and it is important to assess their impact when replicating a physiological rhythm.

Last Updated: 19 Jan 2017

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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 "Congenital adrenal hyperplasia" returned 35 free, full-text review articles on human participants. First 3 results:

Classic congenital adrenal hyperplasia.
 

Author(s): Ingrid Nermoen, Eystein S Husebye, Anne Grethe Myhre, Kristian Løvås

Journal:

 

Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, ...

Last Updated: 6 Apr 2017

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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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Non-Classical Congenital Adrenal Hyperplasia in Childhood.
 

Author(s): Selim Kurtoğlu, Nihal Hatipoğlu

Journal: J Clin Res Pediatr Endocrinol. 2017 Mar;9(1):1-7.

 

Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may ...

Last Updated: 29 Jun 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Adult Height Prediction in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 19 May 2017

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Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 13 Jul 2017

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Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia; CAH - Congenital Adrenal Hyperplasia

 

Last Updated: 21 Aug 2017

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