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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How do you compare to others with this condition?

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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

 

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 "Congenital adrenal hyperplasia" returned 270 free, full-text research articles on human participants. First 3 results:

Testicular adrenal rest tumors in a patient with congenital adrenal hyperplasia.
 

Author(s): Jeffrey Dee Olpin, Benjamin Witt

Journal:

 

Congenital adrenal hyperplasia refers to a group of autosomal recessive disorders caused by a deficiency of an enzyme involved in the synthesis of glucocorticoids. The enzyme deficiency generally leads to a deficiency of cortisol and/or aldosterone production within the adrenal cortex. ...

Last Updated: 26 Jun 2014

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Phenotypic variability in congenital lipoid adrenal hyperplasia.
 

Author(s): Rajesh Joshi, Dhanjit Das, Parag Tamhankar, Shakil Shaikh

Journal: Indian Pediatr. 2014 May;51(5):399-400.

 

Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males.

Last Updated: 23 Jun 2014

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Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia.
 

Author(s): Madson Q Almeida, Laura C Kaupert, Luciana P Brito, Antonio M Lerario, Beatriz M P Mariani, Marta Ribeiro, Osmar Monte, Francisco T Denes, Berenice B Mendonca, Tânia A S S Bachega

Journal:

 

Although chronic adrenocorticotropic hormone (ACTH) and androgen hyperstimulation are assumed to be involved in the pathogenesis of adrenal myelolipomas associated with poor-compliance patients with congenital adrenal hyperplasia (CAH), the expression of their receptors has not yet ...

Last Updated: 4 Jun 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 "Congenital adrenal hyperplasia" returned 28 free, full-text review articles on human participants. First 3 results:

[Congenital adrenal hyperplasia in the adult women: management of old and new challenges].
 

Author(s): Flávia A Costa-Barbosa, Mariana Telles-Silveira, Claudio E Kater

Journal: Arq Bras Endocrinol Metabol. 2014 Mar;58(2):124-31.

 

Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood. Therefore, management throughout adult life became even more ...

Last Updated: 16 May 2014

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Physiological basis for the etiology, diagnosis, and treatment of adrenal disorders: Cushing's syndrome, adrenal insufficiency, and congenital adrenal hyperplasia.
 

Author(s): Hershel Raff, Susmeeta T Sharma, Lynnette K Nieman

Journal: Compr Physiol. 2014 Apr;4(2):739-69.

 

The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol ...

Last Updated: 9 Apr 2014

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Management of adolescents with congenital adrenal hyperplasia.
 

Author(s): Deborah P Merke, Dix P Poppas

Journal: Lancet Diabetes Endocrinol. 2013 Dec;1(4):341-52.

 

The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during ...

Last Updated: 13 Mar 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 13 Jun 2014

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Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Adrenal Insufficiency; Excess Androgen; Congenital Adrenal Hyperplasia (CAH)

 

Last Updated: 10 Mar 2015

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Last Updated: 3 Mar 2015

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