Congenital adrenal hyperplasia : Overview, Causes, & Risk Factors

Alternate Names : Adrenogenital syndrome, 21-hydroxylase deficiency

Definition

Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.

Overview, Causes, & Risk Factors

Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.

Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).

About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

Pictures & Images

Aldosterone level test

Aldosterone is a hormone released by the adrenal glands. It is part of the complex mechanism used by the body to regulate blood pressure. Aldosterone increases the reabsorption of sodium and the excretion of potassium in the distal tubules of the kidneys. The reabsorption of sodium is accompanied by the reabsorption of water, which raises blood pressure.


Review Date : 1/21/2010
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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Symptoms & Signs

Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:

Boys won’t have any obvious problems at birth. However, they may appear to enter puberty as early as 2 – 3 years of age. Changes may include:

  • Deep voice
  • Early appearance of pubic and armpit hair
  • Early development of male characteristics
  • Enlarged penis
  • Small testes
  • Well-developed muscles

Both boys and girls will be tall as children but much shorter than normal as adults.

Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:

Diagnosis & Tests

Genetic tests can help diagnose, confirm, and manage the disease.

This disease may also affect the results of the following tests:


Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

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