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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 affects very young children and newborns.
- Nonclassic congenital adrenal hyperplasia. This milder form usually develops in late childhood or early adulthood.
Classic congenital adrenal hyperplasia
This form of congenital adrenal hyperplasia is usually detected in infancy or early childhood. In girls, signs and symptoms of this condition reflect the influence of being exposed to elevated levels of male sex hormones (androgens) while in the womb. 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.
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
- Failure to regain birth weight
- 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
- Nausea
- Fatigue
- Low blood pressure
- Low bone density
- High blood cholesterol
- Obesity
- Slow recovery from infections, such as colds
When to see a doctor
Contact your doctor 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, talk with your doctor about the advisability of genetic counseling. Your doctor can also discuss with you possible treatment of your fetus before birth (prenatal treatment).
- Congenital adrenal hyperplasia. Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Congenital_Adrenal_Hyperplasia.cfm. Accessed Jan. 29, 2009.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, et al. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa.: Saunders Elsevier; 2008:445
- Bora N. Congenital adrenal hyperplasia. In: Ferri FF. Ferri's Clinical Advisor 2009. St. Louis, Mo.: Mosby; 2008:216.
- Adrenal diseases — congenital adrenal hyperplasia (CAH): The facts you need to know. National Adrenal Diseases Foundation. http://www.nadf.us/diseases/cah.htm. Accessed Jan. 29, 2009.
- Nieman LK. Genetics and clinical presentation of nonclassic (late-onset) congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Merke DP. Genetics and clinical presentation of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Parks JS, et al. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, et al. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier; 2007:2360.
- Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ. Wein: Campbell-Walsh Urology. 9th ed. Saunders Elsevier; 2007:3799.
- Gastaud F, et al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism. 2007;92:1391.
- Nieman LK. Treatment of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency in adults. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 4, 2009.
