Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in newborns. Babies born with CAH cannot make enough of the hormone cortisol, which helps control energy, sugar levels, blood pressure, and how the body responds to the stress of injury or illness.

CAH may also affect the development of the genitals and the hormones of puberty. It can cause females to become more masculine due to a deficiency of the enzyme 21-hydroxylase.

CAH is inherited by an autosomal recessive gene. Autosomal recessive means that each parent carries one copy of the gene and transmits the gene at the same time to the child. Carrier parents have a one in four, or 25 percent chance, with each pregnancy of having an affected child. Affected females have ambiguous genitalia, but affected males do not. CAH is present in about one in 15,000 newborns.

In some cases, the mother of a child with CAH can be given medications during pregnancy to lessen the effects of the enzyme deficiency, if the fetus is female.

Another type of CAH, called "salt-losing," is very serious and often lethal due to an electrolyte collapse in the newborn. Treatment is available if diagnosed early. Males and females are equally affected. There are other, more rare enzyme problems, which can result in CAH, in either males or females.

North Shore-LIJ gynecologists are experienced in the diagnosis and treatment of congenital adrenal hyperplasia. For more information on congenital adrenal hyperplasia or to schedule a consultation, please contact the Division of Pediatric and Adolescent Gynecology at Cohen Children’s Medical Center of New York at 516-390-9258.  For an emergency call 911 or go to the Cohen Children's Medical Center Emergency Room.

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