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 326 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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Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.
 

Author(s): Yasuhiro Naiki, Mami Miyado, Reiko Horikawa, Noriyuki Katsumata, Masafumi Onodera, Songya Pang, Tsutomu Ogata, Maki Fukami

Journal: Endocr. J.. 2016 Oct;63(10):897-904.

 

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase (21-OH) deficiency (21-OHD) is an autosomal recessive disorder, in which CYP21A2 mutations or deletions result in underproduction of glucocorticoid and mineralocorticoid, and overproduction of androgens. Patients with ...

Last Updated: 19 Jul 2016

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[Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China].
 

Author(s): Xin-Mei Mao, Miao Jing, Hai-Yan Tian

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug;18(8):698-701.

 

To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China.

Last Updated: 17 Aug 2016

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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 31 free, full-text review articles on human participants. First 3 results:

Imaging features of poorly controlled congenital adrenal hyperplasia in adults.
 

Author(s): H K Kok, M Sherlock, N A Healy, O Doody, P Govender, W C Torreggiani

Journal: Br J Radiol. 2015 Sep;88(1053):20150352.

 

Congenital adrenal hyperplasia (CAH) is a genetic autosomal recessive condition most frequently as a result of a mutation in the 21-hydroxylase enzyme gene. Patients with poorly controlled CAH can manifest characteristic imaging findings as a result of adrenocorticotrophic hormone ...

Last Updated: 20 Aug 2015

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The next 150 years of congenital adrenal hyperplasia.
 

Author(s): Adina F Turcu, Richard J Auchus

Journal: J. Steroid Biochem. Mol. Biol.. 2015 Sep;153():63-71.

 

Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment ...

Last Updated: 12 Sep 2015

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Adrenal steroidogenesis and congenital adrenal hyperplasia.
 

Author(s): Adina F Turcu, Richard J Auchus

Journal: Endocrinol. Metab. Clin. North Am.. 2015 Jun;44(2):275-96.

 

Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone ...

Last Updated: 3 Jun 2015

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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

A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 20 Dec 2016

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COrticosteroid in Congenital Adrenal Hyperplasia
 

Status: Recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 15 Sep 2015

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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: 17 Mar 2016

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