Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a genetic disorder in which the adrenal gland produces an overabundance of certain male hormones called androgens. As a result, a child with CAH is born with a reproductive tract that is not normally developed, and the child is neither “fully”  male nor female.

Here are some basics about CAH:

  • CAH is one of the most common disorders of sexual differentiation and the most common cause of ambiguous genitalia in newborns.
  • CAH affects one in 5,000 to 15,000 babies in the United States and Europe. CAH affects newborns of both genders equally.
  • Females born with this condition are typically born with an enlarged clitoris, but with normal internal reproductive structures.
  • Males born with this condition have normal genitals at birth, but may become more muscular or develop pubic hair and a deeper voice well before puberty.
  • Females with CAH need hormone replacement therapy, and in some cases, reconstructive surgery. Males with CAH typically only require medical follow-up.
  • With medical management, surgical management and psychosocial support, children with CAH can lead full and healthy lives and enjoy a normal life expectancy.

How Boston Children’s Hospital approaches congenital adrenal hyperplasia       

The Disorders of Sexual Development (DSD) and Gender Management Service (GeMS) at Children's is a multidisciplinary clinic that treats children with CAH and other disorders of sexual differentiation. Here at GeMS, we’re sensitive to the both the physical and the psychosocial aspects of these conditions, and work closely with patients and their families to find the treatment that works best for everyone.

Congenital Adrenal Hyperplasia: Reviewed by David A. Diamond, MD © Children’s Hospital Boston; posted in 2011