Congenital adrenal hyperplasia, or CAH (also known as adrenogenital syndrome or 21-hydroxylase deficiency), is a genetic defect that affects the adrenal glands, causing a lack of enzymes needed to make certain hormones known as corticosteriods. Those hormones, cortisol and aldosterone, are needed to inhibit androgen, a male sex hormone such as testosterone. Children board with CAH tend to exhibit male characteristics too early and can cause those with the condition a need to monitor their illnesses and stress levels closely.
It is a rare condition affecting 1 in every 10,000 to 18,000 children, according to Medline Plus. The condition is genetic, or along the inheritance pattern known as autosomal recessive. Both parents are carriers or themselves have CAH.
While reading this article, remember to consult your physician. They are the best source for current information if you have medical questions and are concerned for family member.
Located on top of the kidneys, the triangle-shaped glands are referred to as adrenal glands. The outer portion is called the cortex, and it is required to create cortisol, testosterone, and aldosterone. The inner portion is called the medulla and makes the homrones noradrenalin and adrenaline.
Affect on Boys
Boys may seem to have reached puberty as early as 2 or 3 years old. They may develop a deep voice, become muscular, and develop adult genitalia and pubic and armpit hair.
Affect on Girls
Girls may develop unusual amounts of facial hair as well as early development of pubic and armpit hair. They may have genitalia that appears both male and female, a deep voice, and fail to menstruate.
Treatment and Complications
Hormone replacement is necessary to replace missing hormones, usually with Florinef and Cortef. Regular communication with an endocrinologist is necessary.
Most people with CAH live normal, healthy lives though they may be somewhat shorter than average and will require medication for their entire lives. It is possible they may develop high blood pressure and low blood sugar, tumors in men’s testes, adrenal crisis that can affect infants, and any medication side-effects. Adrenal crisis can manifest in infants with vomiting, dehydration, cardiac arrhythmias, and electrolyte changes.
Many people with CAH join online support groups and use Medic Alert.
States that Screen for CAH
Genetic counseling is recommended for families with a record of CAH. Screening can be done with on heelstick blood. Prenatal diagnosis may be available as well; check with your doctor. Diagnosis can be done in the second trimester.
The following states require screening: Alabama, Alaska, Arizona, Colorado, Connecticut, Delaware, Florida, Georgia, Hawaii, Illinois, Indiana, Iowa, Maine, Maryland, Massachusetts, Michigan, Minnesota, Mississippi, New Jersey, New Mexico, North Carolina, North Dakota, Oregon, Pennsylvania, Rhode Island, South Carolina, Tennessee, Texas, Virginia, Washington, and Wisconsin.
States that do not screen: Arkansas, California, Idaho, Kansas, Kentucky, Louisiana, Missouri, Montana, Nebraska, Nevada, New Hampshire, New York, Ohio, Oklahoma, South Dakota, Utah, Vermont, West Virginia, and Wyoming.
However, that status can change state-to-state, so check with your physician.
Groups Most At Risk
Ethnically, groups most at risk include Eskimos, Ashkenazi Jews, Hispanics, Yugoslavs and Italians.
CongenitalAdrenalHyperplasia.org, “Congenital Adrenal Hyperplasia; Education and Support Network”
Medline Plus, “Congenital adrenal hyperplasia” U.S. National Library of Medicine, NIH
Mayo Clinic, “Congenital adrenal hyperplasia”