What is Congenital adrenal hyperplasia?

What is Congenital adrenal hyperplasia?

• Congenital adrenal hyperplasia: Congenital genetic disease with insufficiency of the adrenal glands.

Congenital adrenal hyperplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Congenital adrenal hyperplasia, or a subtype of Congenital adrenal hyperplasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Congenital adrenal hyperplasia as a "rare disease".
Source - Orphanet

Congenital adrenal hyperplasia: Introduction

Types of Congenital adrenal hyperplasia:

Broader types of Congenital adrenal hyperplasia:

• Hyperplasia
• Adrenal disorders
• Genetic Disease
• Intersex conditions
• more types...»

How serious is Congenital adrenal hyperplasia?

Complications of Congenital adrenal hyperplasia: see complications of Congenital adrenal hyperplasia

What causes Congenital adrenal hyperplasia?

Causes of Congenital adrenal hyperplasia: see causes of Congenital adrenal hyperplasia
Causes of Congenital adrenal hyperplasia: The most common cause of CAH is a deficiency of the enzyme 21-hydroxylase. The gene for this enzyme lies on chromosome 6. There are two copies of the gene because of a duplication that occurred hundreds of thousands of years ago. One gene is called CYP21 and is the active gene; the other is called CYP21P and is inactive. The 21-hydroxylase deficiency is unique because most mutations result from the transfer of genetic information between inactive and active genes. (Source: Genes and Disease by the National Center for Biotechnology)

What are the symptoms of Congenital adrenal hyperplasia?

Symptoms of Congenital adrenal hyperplasia: see symptoms of Congenital adrenal hyperplasia

Complications of Congenital adrenal hyperplasia: see complications of Congenital adrenal hyperplasia

Can anyone else get Congenital adrenal hyperplasia?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
Inheritance: see inheritance of Congenital adrenal hyperplasia

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Congenital adrenal hyperplasia: Testing

Diagnostic testing: see tests for Congenital adrenal hyperplasia.

Misdiagnosis: see misdiagnosis and Congenital adrenal hyperplasia.

How is it treated?

Treatments for Congenital adrenal hyperplasia: see treatments for Congenital adrenal hyperplasia
Research for Congenital adrenal hyperplasia: see research for Congenital adrenal hyperplasia

Society issues for Congenital adrenal hyperplasia

Hospitalization statistics for Congenital adrenal hyperplasia: The following are statistics from various sources about hospitalizations and Congenital adrenal hyperplasia:

• 0.005% (612) of hospital consultant episodes were for adrenogenital disorders in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
• 97% of hospital consultant episodes for adrenogenital disorders required hospital admission in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
• 44% of hospital consultant episodes for adrenogenital disorders were for men in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
• 56% of hospital consultant episodes for adrenogenital disorders were for women in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
• 19% of hospital consultant episodes for adrenogenital disorders required emergency hospital admission in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
• more statistics...»

Organs Affected by Congenital adrenal hyperplasia:

Organs and body systems related to Congenital adrenal hyperplasia include:

• Adrenal

Name and Aliases of Congenital adrenal hyperplasia

Main name of condition: Congenital adrenal hyperplasia

Class of Condition for Congenital adrenal hyperplasia: genetic

adrenogenital syndrome, 21 Hydroxylase deficiency

21 Hydroxylase deficiency, Adrenogenital syndrome, 21 Hydroxylase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)