Congenital Adrenal Hyperplasia – Diagnosis and Treatment

Diagnosis

Finding CAH Before Birth

Special procedures can check if an unborn baby is at risk for congenital adrenal hyperplasia.

Two main tests help identify the risk:

• Amniotic Fluid Removal: A healthcare provider uses a needle to take a sample of the fluid surrounding the baby. Lab specialists review the cells from this fluid.
• Placenta Cell Sampling: Health experts collect a small piece of the placenta, the organ that nourishes the baby. Lab staff check this sample for gene changes related to CAH.

These tests mainly serve families where CAH or 21-hydroxylase deficiency is already known. Prenatal diagnosis provides important information about the baby’s health before birth.

Checking Babies and Young Children

Most newborns in the United States and other countries have a blood test a few days after birth to look for classic CAH.

This screening measures hormones produced by the adrenal glands and detects 21-hydroxylase deficiency but does not pick up nonclassic CAH.

For baby girls with outer genital organs that look different from what is expected, doctors perform further checks, including:

• Genetic Testing: Specialists examine chromosomes to confirm sex and identify genetic changes responsible for CAH.
• Pelvic Ultrasound: Imaging reveals the presence and shape of inner reproductive organs, such as the uterus and ovaries.
• Hormone Level Checks: Additional blood tests assess adrenal androgens, cortisol, and other important hormones.

Identifying CAH in Older Children and Adults

When symptoms appear later, doctors use several methods to make a diagnosis:

• Evaluating Physical Symptoms: The healthcare provider reviews growth, blood pressure, and other body changes. They look for early puberty, rapid growth, or signs of high androgen levels, like excess body hair (hirsutism) or ambiguous genitalia.
• Blood and Urine Analysis: Doctors measure adrenal hormones, electrolytes (like sodium and potassium), and ACTH. High adrenal androgens or low cortisol suggest CAH.
• X-ray Imaging: They sometimes use hand or wrist X-rays to see if bones are maturing more quickly than average.
• DNA Analysis: Genetic tests identify changes in the gene that causes CAH, confirming the diagnosis and exact type, whether classic or nonclassic.

These steps help distinguish CAH from other causes of similar symptoms and guide proper treatment.

Treatment

Medicines Used to Restore Hormone Balance

Doctors treat congenital adrenal hyperplasia (CAH) with daily medicine to replace missing hormones and control excess androgens. Children and adults usually work with an endocrinologist and other healthcare specialists.

Doctors prescribe glucocorticoids to replace cortisol and lower androgens, promoting normal growth and development. They may increase doses during illnesses or stress.

Doctors give mineralocorticoids when aldosterone levels are too low. These medicines balance salt and water, preventing dehydration, salt wasting, low sodium (hyponatremia), and high potassium (hyperkalemia). Many children also need extra salt in their food, especially babies.

Balanced hormone levels help lower the risk of infertility for both males and females with CAH. In some cases, a reproductive endocrinologist may prescribe additional medicines or treatments to support fertility.

Healthcare teams provide regular checkups that include:

• Growth and development checks (height, weight, blood pressure, bone health).
• Hormone level blood tests.
• Monitor for side effects like slow growth, bone loss, or symptoms of excessive steroid use, such as Cushing syndrome.
• Adjusting medicine doses as children grow or when adults’ needs change.

People with classic CAH should wear a medical alert bracelet or necklace to receive appropriate help in emergencies.

Genital Reconstruction Options

Some female infants with classic CAH are born with genitalia that look different from what is typical. The healthcare team might suggest genital reconstructive procedures to improve both function and appearance.

Surgeons may reduce the size of the clitoris and make changes to the vaginal opening. Usually, they consider surgery when the baby is 3 to 6 months old.

However, some families decide to wait so the child can make their own decisions about surgery later.

Deciding when to have surgery takes careful thought. Parents or caregivers, healthcare professionals, and sometimes the child, when appropriate, should all participate in the decision.

Possible topics to discuss before surgery:

• Medical risks and benefits.
• Cosmetic results.
• Future sexual and reproductive health.
• The timing of surgery and the possibility of needing more surgery later.

Support for Emotional and Social Health

Living with CAH can affect more than just physical health. Emotional well-being and mental health are important, too. Children, teens, and adults might face challenges in school, work, or relationships because of their diagnosis or treatment.

A mental health specialist familiar with CAH can help families cope with stress, anxiety, or social pressures related to the condition and its therapies. Support groups also offer information and encouragement.

Key areas where mental health support can help:

• Understanding and accepting a CAH diagnosis.
• Dealing with body image or identity issues.
• Building resilience during times of medical stress or change.
• Supporting decisions about fertility and family planning.

Handling Stress and Seeking Help

Support from both family and healthcare providers plays a key role for individuals with CAH and their families.

It can help boost confidence and build a better social life. Talking to mental health experts is often useful, especially when dealing with stress.

Tips for managing:

• Stay connected with a support network.
• Consider counseling if needed.
• Discuss worries with a trusted healthcare provider.

Getting Ready for Your Medical Visit

Steps to Prepare

Before the appointment, families can take several useful steps:

• Review Any Instructions: Some visits may need special steps before arriving, such as avoiding certain foods or drinks. This helps ensure blood or urine tests are accurate.

• Track Symptoms: Write down any symptoms the child has, when they started, and how often they happen. Keeping notes can help the healthcare team.

• Gather Medical Details: Collect information about recent illnesses, current health conditions, and all medicines, vitamins, or herbal supplements being taken. Include dosage and how often they are used.

• List Important Questions: Prepare questions for the doctor. Here are some examples:

Question Type	Example Questions
Symptoms & Causes	– What might be causing these health problems? – Are there other possible reasons for these signs?
Tests & Treatment	– What tests will be needed? – What are the choices for treatment? – What results should we expect?
Side Effects & Care	– Are there side effects of the treatment? – How will the child’s health be followed over time? What are the chances of long-term health problems?
Support	– Should mental health care be part of the plan? – Is meeting with a genetic counselor recommended?

Bringing along a family member or friend can also help. They may give support and help remember what the doctor says.

How the Doctor Will Guide the Visit

The healthcare provider will likely ask several questions to better understand the child’s health. Some questions may include:

• What symptoms does your child have, and when did they start?
• Do any family members have similar health problems, such as congenital adrenal hyperplasia?
• If a family member received a diagnosis, what treatments did they use?

Pediatric endocrinologists can provide detailed testing and care plans, especially for conditions involving the adrenal glands or monitoring for testicular adrenal rest tumors (TART).