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Tests and diagnosis
By Mayo Clinic staffYour child's doctor first conducts a physical exam and evaluates symptoms. If, based on these findings, the doctor suspects that your child may have congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine tests.
Blood and urine tests measure levels of hormones manufactured by the adrenal glands — cortisol, aldosterone and androgens. A diagnosis can be made when there are abnormal levels of these hormones. In many states, doctors are required to conduct hormonal tests for congenital adrenal hyperplasia in newborns' first few days of life, analyzing blood that's drawn from a heel prick of the newborn.
Prenatal testing
In recent years, doctors have had the tools for prenatal screening for and diagnosis of congenital adrenal hyperplasia in fetuses. These tools are used most often when siblings have the disease or family members are known to carry the gene defect.
If you're pregnant and have a history or family history of the disease, your doctor may recommend one of the following tests:
- Amniocentesis. This procedure uses a needle to withdraw a sample of cells from the amniotic fluid in the womb and determine in the laboratory whether the condition is present.
- Chorionic villus sampling. This test involves withdrawing cell samples from the placenta for analysis in the laboratory.
If the condition is diagnosed before birth, treatment can be started in the womb. Prenatal diagnosis and therapy may be able to reduce the risk of complications.
Testing to determine a child's sex
After birth, it may appear that your child has ambiguous external genitalia, and thus the sex of your baby will be inconclusive. In that case, genetic blood tests can analyze chromosomes — in a test called karyotyping — to definitively determine the sex of your child.
In addition, a pelvic ultrasound can provide images of female reproductive structures (the cervix, uterus and fallopian tubes) to help in the process of determining your child's sex.
- 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
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- 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.
