Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a group of genetic disorders affecting the adrenal glands. Children with congenital adrenal hyperplasia are unable to produce sufficient amounts of the hormones cortisol and aldosterone, and can experience issues from mild to life threatening. At the Michigan Center for Congenital Adrenal Hyperplasia, part of the Pediatric Endocrinology, Diabetes and Metabolism Service at Michigan Medicine, our multidisciplinary team of specialists offers comprehensive evaluation and treatment of these disorders, and serves as a resource for congenital adrenal hyperplasia health care providers in Michigan.

The absence of cortisol and aldosterone hormones causes the body to produce androgen, a male sex hormone that can result in a number of changes in both boys and girls. While boys can appear to enter puberty at a very young age, girls can take on male characteristics and have ambiguous genitalia. Both boys and girls with congenital adrenal hyperplasia generally also have short stature.

Congenital adrenal hyperplasia is most easily identifiable in female infants born with ambiguous genitalia. Male newborns and female newborns without ambiguous genitalia often escape detection until the baby experiences “adrenal crisis” from low production of cortisol — a life-threatening condition that can include dehydration, vomiting, low blood pressure, high fever and shock. Early detection of the disease is therefore crucial to saving lives.

Another form of the disorder is called non-classical congenital adrenal hyperplasia, which represents a lesser degree of the disorder. Children with non-classical congenital adrenal hyperplasia produce some cortisol but not a sufficient amount. Affected boys and girls experience precocious puberty and have advanced bone age — the latter resulting in short stature in adulthood. Female patients produce excessive amounts of male hormones, resulting in irregular menses, infertility, severe acne and excessive male-patterned hair growth. Treatment is started when the patient shows signs of precocious puberty (when puberty begins at a very early age) or excessive male hormone production.

Lifesaving Screening Program for Congenital Adrenal Hyperplasia

The State of Michigan Newborn Screening Program has been screening babies for congenital adrenal hyperplasia since 1993. The blood samples are collected in the nursery and sent to a state lab in Lansing for processing. Babies who test positive must return to the hospital immediately for a confirmatory test and, if necessary, to start treatment. The Michigan Center for Congenital Adrenal Hyperplasia staff are available for consultation/evaluation of all babies newly diagnosed with CAH, and serves as a resource for health care providers in Michigan.

Collaborative Team — Superior Care

Our team includes pediatric endocrinologists, pediatric surgeons, pediatric urologists, genetic counselors, child psychiatrists/psychologists, a medical social worker and a clinical assistant, working collaboratively to evaluate and treat your child.

The goal for children with congenital adrenal hyperplasia is to achieve normal hormone levels, which generally comes in the form of a cortisol injection. Our staff thoroughly educates the family on all matters of congenital adrenal hyperplasia, including how and when to administer an injection, and the risks of not providing injections. Our team will also discuss surgical options for girls born with ambiguous genitalia.

As this disorder runs in families, parents with a family history of congenital adrenal hyperplasia may choose to meet with one of our certified genetic counselors for testing and further education

Take the next step

For more information or to make an appointment, call 734-764-5175.