Congenital Adrenal Hyperplasia

Common Name(s)

Congenital Adrenal Hyperplasia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Adrenal Hyperplasia" for support, advocacy or research.

CARES Foundation, Inc.

CARES Foundation is a 501(c)(3) organization that leads the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research. It serves patients, health professionals, and the public with information about congenital adrenal hyperplasia; a group of disorders that result from the impaired ability of the adrenal glands to produce hormones known as corticosteriods, resulting in various metabolic problems. All CARES services are provided free of charge or at a nominal fee to anyone requesting them. These include: one-on-one support for affected individuals and their families; research grants and participant recruiting for qualifying researchers for treatments and a cure; educational conferences for individuals, their families, and health care professionals; educational tools for better living with CAH; monitoring of newborn screening in the US and support for development internationally; b

http://www.caresfoundation.org

Last Updated: 31 Dec 2012

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

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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.

CARES Foundation, Inc.

CARES Foundation is a 501(c)(3) organization that leads the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research. It serves patients, health professionals, and the public with information about congenital adrenal hyperplasia; a group of disorders that result from the impaired ability of the adrenal glands to produce hormones known as corticosteriods, resulting in various metabolic problems. All CARES services are provided free of charge or at a nominal fee to anyone requesting them. These include: one-on-one support for affected individuals and their families; research grants and participant recruiting for qualifying researchers for treatments and a cure; educational conferences for individuals, their families, and health care professionals; educational tools for better living with CAH; monitoring of newborn screening in the US and support for development internationally; b

http://www.caresfoundation.org

Last Updated: 31 Dec 2012

View Details
Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 2013

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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General Resources

Introduction to Congenital Adrenal Hyperplasia

General Information for the parents of newly diagnosed children in easy to understand terms and many resources which parents of affected children find very helpful (including private chat groups).

Uploaded By: The MAGIC Foundation

Updated 7 Nov 2012

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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 259 free, full-text research articles on human participants. First 3 results:

[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].
 

Author(s): Xiao-Mei Lin, Ben-Qing Wu, Jin-Jie Huang, Bo Li, Yi Fan, Lin-Hua Lin, Qiu-Xuan Yao, Wen-Yuan Wu, Lian Yu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):942-7.

 

CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood ...

Last Updated: 15 Nov 2013

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Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.
 

Author(s): Rachel L Knowles, Javaria M Khalid, Juliet M Oerton, Peter C Hindmarsh, Christopher J Kelnar, Carol Dezateux

Journal: Arch. Dis. Child.. 2014 Jan;99(1):30-4.

 

To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potential benefit of newborn screening for late-presenting CAH.

Last Updated: 16 Dec 2013

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[Congenital adrenal hyperplasia of late revelation: about a rare case].
 

Author(s): Sofia Jayi, Fatima Zahra Fdili, Hakima Bouguern, Hekmat Chaara, Abdelilah Melhouf

Journal:

 

Last Updated: 2 Jul 2013

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

Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.
 

Author(s): Abdulmoein E Al-Agha, Ali H Ocheltree, Masha'el D Al-Tamimi

Journal: Turk. J. Pediatr.. ;54(4):323-32.

 

Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are transmitted as an autosomal recessive trait. ...

Last Updated: 22 May 2013

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Management of congenital adrenal hyperplasia in childhood.
 

Author(s): Mimi S Kim, Anna Ryabets-Lienhard, Mitchell E Geffner

Journal: Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):483-8.

 

Congenital adrenal hyperplasia (CAH) can present management challenges to the pediatric clinician. Glucocorticoid replacement remains the cornerstone of treatment; however, there are new formulations and delivery mechanisms being studied. Clinicians continue to discuss the optimal ...

Last Updated: 6 Nov 2012

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Testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: case report and literature review.
 

Author(s): Elżbieta Budzyńska, Iwona Beń-Skowronek

Journal: Pediatr Endocrinol Diabetes Metab. 2011 ;17(4):239-42.

 

Nodular testicular lesions derived from adrenal tissue (testicular adrenal rest tumours - TART) in boys and men with congenital adrenal hyperplasia (CAH) lead to testicular structure damage, spermatogenesis disorders, and infertility. Hyperplasia of the ectopic adrenal tissue in testes ...

Last Updated: 20 Jan 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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: 12 Nov 2013

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Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency.
 

Status: Recruiting

Condition Summary: Adrenal Hyperplasia, Congenital; 21-hydroxylase Deficiency

 

Last Updated: 19 Dec 2013

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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: 14 Mar 2014

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