Adrenogenital Syndrome

Common Name(s)

Adrenogenital Syndrome, Congenital adrenal hyperplasia

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 "Adrenogenital Syndrome" 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 "Adrenogenital Syndrome" 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 "Adrenogenital Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case].
 

Author(s): I Díez López, A Rodríguez Estévez, E González Molina, M Martínez Ayucar, B Rodríguez Pérez, B Ezquieta Zubicaray

Journal: An Pediatr (Barc). 2010 Jan;72(1):72-8.

 

The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and ...

Last Updated: 4 Feb 2010

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[Adrenogenital syndrome: feminizing genital reconstruction].
 

Author(s): Indre Zaparackaite, Vidmantas Barauskas, Ole Henrik Nielsen, Riitta Jokela

Journal: Medicina (Kaunas). 2002 ;38(7):706-11.

 

Adrenogenital syndrome, or so called congenital adrenal hyperplasia, is caused by a congenital insufficiency of the enzyme 21-hydroxylase, which is responsible for converting cortisol into cholesterol. Because of virilizing effect of androgens overproduction girls develop clitoral ...

Last Updated: 6 Dec 2002

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Adrenogenital syndrome caused by an androgen-producing adrenocortical tumor.
 

Author(s): T Sakuma, T Yamaguchi, H Abe, F Kanda, K Hanioka, K Hisano, H Ito, M Okada, K Chihara

Journal: Intern. Med.. 1994 Dec;33(12):790-4.

 

We describe here a typical case of virilizing adrenocortical tumor. A 23-year-old Japanese woman had her male-like musculature, hirsutism, the absence of breast development and marked clitoromegaly. Adrenal androgens were remarkably elevated, with plasma dehydroepiandrosterone sulfate ...

Last Updated: 25 May 1995

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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 "Adrenogenital Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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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

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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Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Adrenal Hyperplasia, Congenital

 

Last Updated: 29 Nov 2013

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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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