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

 

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

Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.
 

Author(s): Shabbir Hussain

Journal: J Pak Med Assoc. 2016 May;66(5):612-4.

 

Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. ...

Last Updated: 17 May 2016

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Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report.
 

Author(s): Parviz K Kavoussi, Roxanne B Summers-Colquitt, Kate C Odenwald, Megan Kressin, Keikhosrow M Kavoussi, Thomas B Pool, Shahryar K Kavoussi

Journal: J. Assist. Reprod. Genet.. 2016 Apr;33(4):545-8.

 

The objective of this study was to offer a new treatment approach for sperm retrieval simultaneously with tumor resection in azoospermic men with congenital adrenal hyperplasia (CAH), orchialgia, and bilateral testicular adrenal rest tumors (TARTs) who fail to respond to medical treatment.

Last Updated: 3 Apr 2016

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The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
 

Author(s): Yang Long, Su Han, Xiangxun Zhang, Xiaojuan Zhang, Tao Chen, Yun Gao, Haoming Tian

Journal: Endocr. J.. 2016 ;63(3):301-10.

 

Deficiency of steroid 11β-hydroxylase activity occurs in 5-8% of patients with congenital adrenal hyperplasia (CAH). The aim of the current study was to identify mutations in the CYP11B1 gene of a patient with CAH due to deficiency of steroid 11β-hydroxylase activity, and to study ...

Last Updated: 4 Apr 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 33 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

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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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