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Congenital Adrenal Hyperplasia
Monday, 18 August 2003
Thursday, 21 September 2006
Adrenogenital Syndrome, 21-Hydroxylase Deficiency, CAH


Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands which are organs that are important for producing various hormones. In this condition, people have a defect in the activity of one or more of the enzymes required to make the hormones known as cortisol and aldosterone. As a result, both cortisol and aldosterone levels are greatly reduced. Cortisol is a hormone that helps the body adapt during times of stress. Aldosterone is a hormone that is involved with regulating the amount of water and salt in our bodies. It is important to produce sufficient amounts of cortisol and aldosterone because these hormones can also influence the production of other hormones, such as androgens. Androgens include testosterone, a type of male sex hormone. For CAH patients, the absence or reduced levels of cortisol and aldosterone interferes with the signals involved with regulating androgen production. As a result, male sex hormones become overproduced, which can cause ambiguous genitalia in females or the early development of masculine characteristics in males.


Congenital adrenal hyperplasia affects both male and female children. About 1 in 14,000 children are born with CAH.

Signs and Symptoms

Newborns: In more severe cases of CAH, the body loses too much salt because there is no aldosterone available to regulate it. This salt wasting can lead to:

  1. Vomiting.
  2. Dehydration.
  3. Changes in salt or electrolyte balance.
  4. Heart rhythm abnormalities.

Girls: Females with CAH will have normal internal structures of the reproductive tract (i.e. ovaries, uterus, and fallopian tubes). However, they may have ambiguous external genitalia, which means that their sex may be unclear based on their external sexual features alone. As these girls get older, they may have some or all of the following symptoms:

  1. Early appearance of pubic and armpit hair.
  2. Appearance of abnormal hair growth, such as facial hair.
  3. Masculinization and deep voice.
  4. Failure to menstruate at puberty. Boys: At birth, a newborn boy with CAH may appear normal.

However, as the boy gets older, he will develop symptoms of masculinization even before reaching puberty:

  1. Early development of well-developed masculine characteristics.
  2. Enlarged penis.
  3. Small testes.
  4. Early appearance of pubic and armpit hair.
  5. Enlarged musculature.

Possible Causes

CAH is an autosomal recessive inherited disorder, which means that children develop this disorder only if they receive 2 abnormal copies of a gene, one from each parent. In about 90% of cases of CAH, the problem arises from a defect in an enzyme called 21-hydroxylase, which is made by a gene located on chromosome 6. Without this enzyme, the adrenal glands are not able to produce sufficient amounts of cortisol and aldosterone. Reduced levels of these cause the body to start overproducing androgens, or male sex hormones. The high levels of male sex hormones cause early masculinization in both boys and girls.


In order to diagnose CAH, your child’s doctor will take a blood sample in order to test for the levels of aldosterone and cortisol in the blood. Children with CAH have decreased levels of these hormones in their body. In addition, the doctor may want to determine the level of a steroid called 17-OH progesterone. 17-OH progesterone is a molecule used by the body to make aldosterone and cortisol; when those hormones are not produced, 17-OH progesterone will build-up and become elevated in the blood. In some states, newborns are given a screening test for CAH while they are still in the hospital. Molecular genetic testing is available and can detect over 90% of mutations in the gene causing CAH. Prenatal testing is also currently available.


Treatment is aimed at bringing the hormone levels back to normal. To do so, children are given daily doses of cortisol, such as hydrocortisone, fludrocortisone, or dexamethasone. These medications must be continued for life. For children with ambiguous genitalia, a genetic analysis called karyotyping can be performed to determine if they are male or female. For females with masculine external genitalia, reconstructive surgery can usually be done to correct for the abnormalities.


The prognosis for individuals with CAH is variable. Children need to be followed closely to ensure they are taking adequate doses of cortisol that will suppress androgen production and prevent masculinization and premature puberty. Most individuals will grow to an adult height that may be shorter than normal. Also, males usually tend to have normal fertility, while females tend to have reduced fertility. However, most children treated for CAH are usually in good overall health.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


CARES (Congenital Adrenal hyperplasia Research, Education, and Support) Foundation
A great website with information and links to other resources.

CAH Education and Support Network
Easy to navigate information and support for those affected by the disease. Also includes a glossary of terms and links to other sites.

Magic Foundation
A great website dedicated to children with diseases involving growth with information on support groups, research and ongoing clinical trials.

National Adrenal Disease Foundation
A nice website with educational and supportive information.

Google Search for Congenital Adrenal Hyperplasia

References and Sources

Cotran, R.S., Kumar, V., and T. Collins (1999). Pathologic Basis of Disease. W.B. Saunders Company, 6th edition. pp 1157-1159. Harrisons Online: A New Method for the Diagnosis of Congenital Adrenal Hyperplasia MedlinePlus: Congenital Adrenal Hyperplasia Nieman L.K., Kirkland J.L. Overview of congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. UpToDate Version 14.2, 2006 (on-line information service). Available at: Nieman L.K., Kirkland J.L. Treatment of congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency in infants and children. UpToDate Version 14.2, 2006 (on-line information service). Available at: