Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a group of inherited disorders that affect the adrenal glands. These two small glands sit on top of your kidneys and make important hormones. In people with this condition, the adrenal glands cannot make cortisol properly due to missing or faulty enzymes.

When cortisol production is blocked, the body tries to compensate by making more of other hormones. This often leads to too much testosterone and other androgens, which are typically male hormones. The severity varies widely from person to person. Some people have a severe form that shows up at birth. Others have a milder form that might not cause symptoms until childhood or even adulthood.

The most common type is called 21-hydroxylase deficiency, which accounts for about 95% of cases. Without enough cortisol, your body struggles to respond to stress and regulate blood pressure. The excess androgens can affect growth, development, and sexual characteristics. Early detection through blood testing helps manage the condition and prevent serious complications.

Symptoms depend on which form of congenital adrenal hyperplasia you have and how severe it is. Common signs include:

• Early puberty or rapid growth in childhood followed by shorter than average adult height
• Irregular or absent menstrual periods in women
• Excess facial or body hair in women
• Severe acne that does not respond to typical treatments
• Deepening of the voice in women
• Difficulty getting pregnant or infertility
• Low blood pressure or salt cravings
• Darkening of the skin in certain areas
• Dehydration or poor weight gain in infants
• Ambiguous genitalia in newborn girls

Some people with the milder form have no obvious symptoms for years. Others may only notice signs during times of illness or stress. Newborns with the severe form can develop a life-threatening crisis within weeks if not diagnosed and treated.

Congenital adrenal hyperplasia is caused by genetic mutations that are passed down from parents to children. Both parents must carry the altered gene for a child to develop the condition. When both parents are carriers, each child has a 25% chance of inheriting the disorder. The mutated genes affect enzymes needed to produce cortisol and sometimes aldosterone, another important adrenal hormone.

You cannot prevent congenital adrenal hyperplasia through lifestyle choices because it is present from birth. However, certain ethnic groups have higher carrier rates. People of Ashkenazi Jewish, Hispanic, Mediterranean, or Slavic descent face increased risk. Genetic counseling can help families understand their risk if they have a family history of the condition or belong to higher-risk populations.

Diagnosis starts with blood tests that measure hormone levels. Doctors look for high levels of androgens like testosterone and low levels of cortisol. Testing free testosterone and estrone can reveal the hormone imbalances typical of congenital adrenal hyperplasia. Rite Aid offers testing for these biomarkers as an add-on to help detect hormone abnormalities.

Additional tests may include measuring 17-hydroxyprogesterone, which is usually very high in people with the most common form. Genetic testing can confirm the diagnosis and identify the specific mutation. Newborn screening programs in all 50 states now test for congenital adrenal hyperplasia shortly after birth. If you have symptoms or a family history, blood testing can identify the condition at any age.

Treatment focuses on replacing the hormones your body cannot make and reducing excess androgens. Common approaches include:

• Taking daily glucocorticoid medication to replace cortisol and reduce androgen production
• Taking mineralocorticoid medication if your body does not make enough aldosterone
• Increasing medication doses during illness, injury, or surgery to prevent adrenal crisis
• Adding extra salt to your diet if you lose too much sodium
• Taking anti-androgen medications or birth control pills to manage excess hair growth or irregular periods in women
• Working with an endocrinologist who specializes in hormone disorders
• Regular blood tests to monitor hormone levels and adjust medication doses
• Wearing a medical alert bracelet in case of emergency
• Genetic counseling for family planning decisions

With proper treatment, most people with congenital adrenal hyperplasia live healthy, active lives. The key is consistent medication and regular monitoring. Never stop taking your medication without talking to your doctor, as this can lead to a dangerous adrenal crisis.