Congenital Adrenal Hyperplasia Comprehensive Care

Our interdisciplinary team is highly experienced with treating Congenital Adrenal Hyperplasia (CAH) and related disorders and will answer all your questions at your visit. Children are treated from infancy through childhood. Transitional care to adulthood is an integral part of the comprehensive care CAH patients will receive. Prenatal consultations are provided as needed. Research, education, and advocacy are a significant component of the care we provide. Our aim is to improve long-term outcomes and satisfaction for our patients and their caregivers. Treatment is tailored to patients with CAH in an environment focused on health and quality of life at all stages of development. 

Frequently asked questions about CAH

  1. What is CAH and what causes it?
    Congenital adrenal hyperplasia in the common severe form is a condition in which the adrenal gland does not function properly, causing an imbalance of several important hormones. It is usually caused by deficiency of an enzyme called steroid 21-hydroxylase. In this disorder, the adrenal gland lacks the capacity to make enough of critically important hormones called cortisol and aldosterone, while at the same time producing excess male hormones.

  2. What happens when a person is missing 21-hydroxylase?
    A near-complete deficiency of this enzyme results in the inability to cope with stress. The lack of cortisol can cause low blood sugar and weak heart function. The lack of aldosterone results in a condition known as “salt- wasting.” The combination of these two hormone deficiencies is may result in low blood pressure and shock if not recognized and properly treated.

  3. What is the result of excess male hormones in infants?
    In female babies born with a severe form of CAH, exposure to excess male hormones may cause changes in the appearance of the external genitalia to a variable degree. This may include enlargement of the female clitoris and narrowing of the lower vagina. In extreme cases, a baby girl’s genitals may appear more male-like. Even in such infants the internal organs are still typical for females including normal uterus, fallopian tubes, ovaries and the upper portion of the vagina. Baby boys affected with CAH due to 21-hydroxylase deficiency do not show atypical genitalia. Their internal organs are also normal, including testes, prostrate, seminal vesicles, etc.

  4. How is CAH diagnosed?
    All infants born in the United States and in many other developed countries are now screened with a blood test to measure hormone levels that check for CAH. An abnormal screening test result will prompt referral to a pediatric endocrinologist who may then order additional confirmatory testing.

  5. How is CAH treated?
    Medical treatment consists of replacing the missing hormones. Usually hydrocortisone is given to replace the natural hormone cortisol. Fludrocortisone is given to replace aldosterone. Infants who consume very little salt in breast milk or formula may require sodium chloride tablets as well. These medications are given as maintenance therapy by mouth. In severe forms of CAH these treatments are required for the long term. In cases where patients are unable to take oral medications, they may need to receive injections and intravenous fluids. Some individuals may eventually taper and discontinue fludrocortisone and/or salt supplements, however for those diagnosed in infancy, cortisol replacement is needed throughout life.

  6. Is there a role for reconstructive genital surgery? 
    This is a discussion that each family must have on a case-by-case basis with their team of physicians. There is no emergency in deciding whether to perform surgery. Although surgeons may recommend doing this procedure within the first year of life, some patient advocates and physicians prefer to delay the surgery to an older age when the patient can participate in this decision. In some situations, surgery may be deemed unnecessary altogether.

  7. What kind of monitoring needs to be done?
    Your endocrinologist will discuss with you the type and frequency of blood tests and other procedures to be done. Blood levels of the important adrenal hormones are measured periodically. The frequency depends on how well these levels are controlled. As a child grows, annual x-rays of the wrist are done to monitor skeletal growth.

  8. How is CAH inherited, and will it affect other members of my family?
    CAH is inherited as an autosomal recessive trait, which means that both parents are usually carriers of the CAH trait, but they do not show any symptoms. One in four (25%) of their children may be affected with this disorder. Your doctor will discuss genetic counseling and testing of other family members.

  9. What is the prognosis?
    With proper treatment the patient with CAH can expect to live a long, healthy and productive life. Pediatric endocrinologists pay special attention to a child's height and weight gain. Although medications like hydrocortisone and fludrocortisone are life-saving, large doses over time may cause excess weight gain, hypertension, and stunted growth. During adolescence patients are monitored for hormone imbalance that may result in excess acne, pubertal disturbances, and facial and body hair growth. In young adult life fertility may be impaired. Most patients and families with chronic medical conditions require psychological support at some times. There are treatments available for each of these issues. The multidisciplinary CCC team, including mental health professionals, will help guide you through each stage as needed.

  10. Are there adult specialists who treat CAH?
    Yes, we are fortunate to have on staff physicians experienced in treating both children and adults. At the appropriate time, we will help adolescents transition to adult care.

  11. What is nonclassic CAH?
    Nonclassic CAH, also referred to as mild, late onset, or atypical 21-hydroxylase deficiency, is a non-life-threatening condition in which there is a partial deficiency of the 21-hydroxylase enzyme. These individuals do not usually present in infancy and may not require medical treatment. The details of individual cases should be discussed with an endocrinologist.

  12. Where can I find out more information about CAH?
    Resources include
    1. The CARES Foundation
    2. The Hormone Health Network managed by The Endocrine Society
    3. The National Library of Medicine
    4. Research