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Congenital adrenal hyperplasia
Adrenogenital syndrome; 21-hydroxylase deficiency
Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland .
Adrenal gland
The adrenal glands are two triangle-shaped glands. One gland is located on top of each kidney.
Causes
People have 2 adrenal glands. One is located on top of each of their kidneys. These glands make hormones, such as cortisol and aldosterone, that are essential for life. People with congenital adrenal hyperplasia lack an enzyme the adrenal gland needs to make the hormones.
Enzyme
Enzymes are complex proteins that cause a specific chemical change in all parts of the body. For example, they can help break down the foods we eat ...
At the same time, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).
Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Symptoms
Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has, and their age when the disorder is diagnosed.
- Children with milder forms may not have signs or symptoms of congenital adrenal hyperplasia and may not be diagnosed until as late as adolescence.
- Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before symptoms appear.
- Boys will appear normal at birth, even if they have a more severe form.
In children with the more severe form of the disorder, symptoms often develop within 2 or 3 weeks after birth.
- Poor feeding or vomiting
- Dehydration
- Electrolyte changes (abnormal levels of sodium and potassium in the blood)
- Abnormal heart rhythm
Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:
- Abnormal menstrual periods or failure to menstruate
- Early appearance of pubic or armpit hair
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Excessive hair growth
or facial hair
Excessive hair growth
Most of the time, women have fine hair above their lips and on their chins, chests, abdomens, or backs. The growth of coarse dark hair in these area...
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- Some enlargement of the clitoris
Boys with the milder form often appear normal at birth. However, they may appear to enter puberty early. Symptoms may include:
- Deepening voice
- Early appearance of pubic or armpit hair
- Enlarged penis but normal testes
- Well-developed muscles
Both boys and girls will be tall as children, but much shorter than normal as adults.
Exams and Tests
Your child's health care provider will order certain tests. Common blood tests include:
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Serum electrolytes
Serum electrolytes
Electrolytes are minerals in your blood and other body fluids that carry an electric charge. Electrolytes affect how your body functions in many ways...
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Aldosterone
Aldosterone
The aldosterone blood test measures the level of the hormone aldosterone in blood. Aldosterone can also be measured using a urine test.
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Cortisol
Cortisol
The cortisol blood test measures the level of cortisol in the blood. Cortisol is a steroid (glucocorticoid) hormone produced by the adrenal gland. C...
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X-ray of the left hand and wrist may show that the child's bones appear to be those of someone older than their actual age.
X-ray
X-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray particles through the body. The im...
Genetic tests can help diagnose or confirm the disorder, but they are rarely needed.
Treatment
The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking a form of cortisol, most often hydrocortisone. People may need additional doses of medicine during times of stress, such as severe illness or surgery.
The health care provider will determine the genetic sex of the baby with abnormal genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals may have surgery of their genitalia during infancy.
Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents to report signs of infection and stress to their child's health care provider because the child may need more medication. Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency .
Adrenal insufficiency
Addison disease is a disorder that occurs when the adrenal glands do not produce enough hormones.
Support Groups
These organizations may be helpful:
- National Adrenal Diseases Foundation: www.nadf.us/
- The MAGIC Foundation: www.magicfoundation.org
- The CARES Foundation: www.caresfoundation.org
- Adrenal Insufficiency United aiunited.org
Outlook (Prognosis)
People with this disorder must take medication their entire life. They most often have good health. However, they may be shorter than normal adults, even with treatment.
In most cases, congenital adrenal hyperplasia does not affect fertility.
Possible Complications
Complications may include:
- High blood pressure
- Low blood sugar
- Low sodium
Prevention
Parents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.
Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.
A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heel stick blood (as part of the routine screenings done on newborns). This test is currently performed in most states.
Heel stick
A capillary sample is a blood sample collected by pricking the skin. Capillaries are tiny blood vessels near the surface of the skin.
References
White PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor N, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 576.
Yau M, Khattab A, Pina C, Yuen T, et al. Defects of andrenal steroidogenesis. In: Jameson JL, De Groot LJ, de Krester DM, et al, eds. Endocrinology: Adult and Pediatric . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 104.
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Aldosterone level test - illustration
Aldosterone is a hormone released by the adrenal glands. It is part of the complex mechanism used by the body to regulate blood pressure by reabsorbing water in the kidneys.
Aldosterone level test
illustration
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
