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Symptoms
By Mayo Clinic staffThere are two major types of congenital adrenal hyperplasia:
- Classic congenital adrenal hyperplasia. This more severe form of the disease is usually detected in infancy or early childhood.
- Nonclassic congenital adrenal hyperplasia. This milder form usually develops in late childhood or early adulthood.
Classic congenital adrenal hyperplasia
The most obvious sign of classic congenital adrenal hyperplasia in girls is often abnormal-appearing genitals that look more male than female, which may include an enlarged clitoris — a condition called ambiguous external genitalia. Other signs and symptoms in girls also reflect exposure to elevated levels of male sex hormones (androgens) while in the womb.
The condition is not typically as visually evident in baby boys, although some affected male infants have an enlarged penis.
Signs and symptoms of classic congenital adrenal hyperplasia in infants include:
- Ambiguous genitalia in girls
- Enlarged penis in boys
- Poor weight gain
- Weight loss
- Dehydration
- Vomiting
Signs and symptoms of classic congenital adrenal hyperplasia in children and adults include:
- Very early puberty
- Rapid growth during childhood, but shorter than average final height
- Irregular menstrual cycles in women
- Infertility in women and men
Nonclassic congenital adrenal hyperplasia
This form of congenital adrenal hyperplasia is milder and usually develops in late childhood or early adulthood.
Signs and symptoms are typically most apparent in adolescent girls and women and often include:
- Irregular or absent menstruation
- Masculine characteristics such as facial hair, excessive body hair and a deepening voice
- Infertility
In both females and males, signs and symptoms of nonclassic congenital adrenal hyperplasia also may include:
- Early puberty
- Rapid growth during childhood, but shorter than average final height
- Severe acne
- Low bone density
- High blood cholesterol
- Obesity
When to see a doctor
Contact your child's pediatrician if your child has signs and symptoms that seem to suggest congenital adrenal hyperplasia. Also, if you're pregnant and may be in a high-risk group for congenital adrenal hyperplasia because of your own medical history or your ethnicity, ask your doctor about genetic counseling. Your doctor can also discuss with you possible treatment of your fetus before birth (prenatal treatment).
- Parks JS, et al. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed Jan. 13, 2011.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, et al. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa.: Saunders Elsevier; 2008. http://www.mdconsult.com/das/book/body/191205553-3/0/1555/0.html#.. Accessed Jan. 13, 2011.
- Farrrell TW. Congenital adrenal hyperplasia. In: Ferri FF. Ferri's Clinical Advisor 2011: Instant Diagnosis and Treatment. Philadelphia, Pa.: Mosby Elsevier; 2011. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&about=true&uniqId=230100505-53. Accessed Jan. 13, 2011.
- Congenital adrenal hyperplasia. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/sec19/ch282/ch282e.html. Accessed Jan. 13, 2011.
- Nordenskjöld A, et al. Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. Journal of Clinical Endocrinology & Metabolism. 2008;93:380.
- Frisen L, et al. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. Journal of Clinical Endocrinology & Metabolism. 2009;94:3432.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 18, 2011.
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