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 266 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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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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A three-year follow-up of congenital adrenal hyperplasia newborn screening.
 

Author(s): Isabela L Pezzuti, Cristina B Barra, Rafael M Mantovani, José N Januário, Ivani N Silva

Journal: J Pediatr (Rio J). ;90(3):300-7.

 

congenital adrenal hyperplasia (CAH) newborn screening can prevent neonatal mortality in children with the salt-wasting form of the disease and prevent incorrect gender assignments, which can occur in females. However, the occurrence of false-positive results in preterm or low-birth-weight ...

Last Updated: 9 May 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 26 free, full-text review articles on human participants. First 3 results:

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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Prostate gland development and adrenal tumor in a female with congenital adrenal hyperplasia: a case report and review from radiology perspective.
 

Author(s): Benjamin Fang, Francis Cho, Wendy Lam

Journal:

 

We describe a case of a female with simple virilizing congenital adrenal hyperplasia (CAH) reared as a male diagnosed at the late age of 64. Computed Tomography (CT) demonstrated a large adrenal mass, bilateral diffuse adrenal enlargement, female pelvic organs as well as a clearly ...

Last Updated: 14 Jan 2014

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A girl with steroid cell ovarian tumor misdiagnosed as non-classical congenital adrenal hyperplasia.
 

Author(s): Sebahat Yılmaz-Ağladıoğlu, Şenay Savaş-Erdeve, Esin Boduroğlu, Aşan Önder, İbrahim Karaman, Semra Çetinkaya, Zehra Aycan

Journal: Turk. J. Pediatr.. ;55(4):443-6.

 

Ovarian steroid cell tumors are rarely encountered in prepubertal girls. The majority of these tumors produce hormones, testosterone being the leading one. These tumors may either coexist with or imitate congenital adrenal hyperplasia (CAH). We present a 13-year-old female patient ...

Last Updated: 2 Dec 2013

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Symptoms, Diagnosis, and Treatment

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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: 28 Jan 2015

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Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
 

Status: Not yet recruiting

Condition Summary: Congenital Adrenal Hyperplasia

 

Last Updated: 23 Jan 2015

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