CONGENITAL ADRENAL HYPERPLASIA (CAH) is an autosomal recessive disorder caused by an adrenal and enzyme deficiency (most commonly 21-hydroxylase). This enzyme is necessary for the production of two critical adrenal steroid hormones: cortisol and aldosterone.
CAH exists in two forms: salt wasting and simple virilizing. This condition affects the manufacture of the hormone cortisol in the virilizing (non salt-wasting) form and cortisol and aldosterone in the more severe salt-wasting form.
The incidence of CAH is approximately 1 in 15,000 live births.
CORTISOL is a hormone that is essential to maintain life and is produced by the adrenal gland, a small organ near the kidney. Cortisol is responsible for maintaining the body's energy supply, blood sugar, and control of the body's reaction to stress.
A child affected with CAH can go into adrenal crisis if they experience any unusual stressor, such as an infection, an injury, or surgery. An adrenal crisis, or the complete failure to maintain hormonal balance, can result in death.
ALDOSTERONE is necessary for maintaining a normal balance of salt and water in the body. This hormone is necessary to maintain blood pressure, especially during illness or trauma when the body is stressed.
About two-thirds of children with CAH have the salt wasting form and have trouble retaining sodium and excreting potassium. This can result in life threatening hyponatremia and hyperkalemia, usually at 10-20 days of life.
CAH occurs in both male and female infants. The more severe form of the disorder is called classic CAH. Because the adrenals are unable to produce sufficient cortisol and/or aldosterone, they produce an abundance of hormonal androgens which can have a virilizing affect on female fetuses.
CAH can result in ambiguous genitalia in a newborn female. Affected females are sometimes mistaken for males at birth and require surgical intervention to correct anatomical structures.
CAH in male newborns is not readily identifiable at birth and could be missed until there is a salt-wasting crisis. Historically, an adrenal crisis placed males at greater risk of dying before a diagnosis could be made.
NON-CLASSIC CAHs a milder form of this disorder. It results in such symptoms as severe acne, excess facial and or body hair, early development of pubic hair, receding hairline, menstrual disturbances in females, and infertility in both males and females.
INDIVIDUALS affected with CAH often experience excessive growth at an early age and premature closure of the epiphyses of their bones, resulting in adults of short stature.
APPROPRIATE and early identification and treatment of affected infants can eliminate the complications most often associated with CAH. Newborn screening is a key factor in the early identification of affected infants.
All infants should be tested as early as possible after birth. Delays in diagnosis and treatment may result in early infant death if the infant experiences a crisis episode.
CLINICIANS have primary responsibility for follow-up testing of infants with abnormal screening results. The early diagnosis and treatment of children with CAH is essential for them to achieve normal growth and development.
Timely and appropriate treatment for infants and children affected with CAH is essential for long-term health and well-being. A pediatric endocrinologist is an essential partner in the identification of the disorder and in the formulation of a plan of treatment.
The Virginia Department of Health has identified four regional specialists who are available to assist with diagnosis and treatment of identified children. Other pediatric endocrinologists in your own area may also serve as consultants to assist you in the care of a patient suspected of having CAH.
Virginia Newborn Screening Services will provide you with initial guidance for evaluating an infant with abnormal or critical CAH results.
Long-term treatment consists of providing cortisol and, possibly, other medications to normalize hormonal levels. Proper treatment prevents death, stops the masculinization process, and prevents developmental and growth abnormalities. Females may require surgical correction to normalize affected genitals.
If you have other questions about CAH or other disorders screened by Virginia Newborn Screening Services, please contact:
Virginia Department of Health
Virginia Genetics Program
1-800-523-4011
www.vahealth.org/genetics
Contact us at sharonk.williams@vdh.virginia.gov
Sharon Williams, R.N., M.S.
Virginia Genetics Program Manager
Virginia Department of Health
Division of Child and Adolescent Health
109 Governor Street, 8th Floor, Richmond, Virginia 23219
Phone: (804) 864-7712� FAX: (804) 864-7807
