Managing congenital adrenal hyperplasia (CAH) takes a team. There isn’t a single “CAH doctor”— instead, people with CAH work with different specialists to manage the condition’s various effects on health. Building a care team of knowledgeable specialists can help make life with CAH feel more manageable. No one has all the answers, but the right medical professionals can provide guidance and support.

Here are some specialists you’re likely to encounter along the way.

1. Geneticists or Genetic Counselors

Geneticists are specialists in the study of genes and inherited conditions. Many are medical doctors who diagnose and manage genetic disorders, while others focus on research. If you don’t live near a geneticist, you may be able to meet with one through telehealth (online video appointments with a doctor). A geneticist can also keep you informed about the latest research and clinical trials for congenital adrenal hyperplasia CAH.

CAH is caused by changes (mutations) in specific genes. Because of this, newborn screening programs in all 50 U.S. states test for classic CAH — the more severe type of CAH — at birth. Early diagnosis helps ensure treatment begins as soon as possible.

If both parents of a child with CAH are carriers of a CAH-related gene mutation, they do not have the condition themselves but can pass it on to their children. If these parents are expecting another baby, prenatal genetic testing can help determine if the unborn baby has CAH, allowing for early preparation.

There are several ways to test for CAH during pregnancy, including:

• Chorionic villus sampling (CVS) — Taking a small sample of cells from the placenta
• Amniocentesis — Testing the amniotic fluid surrounding the baby
• Noninvasive prenatal testing (NIPT) — Analyzing fetal DNA in the mother’s blood.

A geneticist works closely with an obstetrician (a doctor who specializes in pregnancy and childbirth) to determine the safest and most appropriate prenatal testing option. They can also explain what the results mean for your family.

Genetic counselors are another valuable resource. While they are not medical doctors, they have specialized training in genetics and must pass a certification exam to practice. They help families understand genetic risks, decide on testing, and interpret results.

2. Endocrinologists

Endocrinologists are doctors who specialize in the endocrine system — the network of glands that produce hormones. Since CAH affects hormone production in the adrenal glands, endocrinologists play a key role in managing the condition. The adrenal glands, located on top of the kidneys, produce important hormones, including:

• Cortisol — Helps manage stress, blood sugar, and immune function
• Aldosterone — A mineralocorticoid that helps regulate salt and water balance
• Androgens — Sex hormones that influence growth and development

In CAH, these hormones are not balanced, which can affect growth, puberty, and overall health. An endocrinologist tailors treatment to help balance hormone levels.

Treatment with hormone replacement therapy — glucocorticoids (like hydrocortisone, prednisone, or dexamethasone) and, in some cases, mineralocorticoids (like fludrocortisone) — supports normal growth and development and lowers the risk of potentially life-threatening CAH complications.

Babies and children with CAH see a pediatric endocrinologist, who monitors growth, puberty, and overall health. Early diagnosis and treatment, including newborn screening for classic CAH, are crucial for preventing complications like poor growth and early puberty.

Adults with CAH may transition to an adult endocrinologist who specializes in lifelong hormone management. In addition, a reproductive endocrinologist can help with fertility, menstrual health, and other reproductive concerns.

If a parent has CAH or has had a child with CAH, prenatal planning may be part of their care. Prenatal treatment of fetuses at risk for CAH using dexamethasone remains controversial due to ongoing medical and ethical debates about potential risks and benefits.

3. Neonatologist

A neonatologist is a doctor who specializes in newborn care, particularly for premature or critically ill infants. They also play a key role in newborn screening programs, which test for genetic and metabolic conditions, including CAH, hypothyroidism, and sickle cell anemia.

Newborn screening for classic CAH is essential because the salt-wasting form can be life-threatening if left untreated. Before screening programs were in place, an estimated 4 percent of babies with classic CAH died due to adrenal crisis caused by severe salt loss. Thanks to early detection and treatment, this risk has significantly decreased.

Beyond reducing infant mortality, early diagnosis of CAH through newborn screening has several other benefits:

• Less severe hyponatremia (low sodium levels), which reduces the risk of serious complications
• Shorter hospital stays for infants diagnosed with CAH
• Lower risk of learning disabilities caused by salt-wasting crises
• Fewer children with atypical genital development later regretting their assigned gender
• Better growth outcomes due to early hormone treatment

4. Urologists

Urologists are doctors who specialize in the urinary tract and bladder. People with CAH commonly see urologists to help manage urinary tract infections (UTIs). Researchers have found that UTIs and other types of infections are more common among people with CAH. Researchers aren’t exactly sure why people with CAH get more infections, but some believe glucocorticoid treatment may play a role.

E. coli, a type of bacteria, is the most common cause of UTIs. Symptoms of a UTI include:

• Blood in the urine
• Chills or fever
• Fatigue
• Frequent urge to pee
• Lower back or side pain
• Pain or burning while urinating
• Cloudy or foul-smelling urine
• Nausea or vomiting

A urologist can test for a UTI and prescribe antibiotics to clear it up. They can also suggest lifestyle tips to help prevent UTIs, such as:

• Practicing good hygiene
• Drinking plenty of water
• Avoiding tight clothing
• Adjusting medications if needed

5. Plastic Surgeon

Some people with CAH have reconstructive surgery to adjust the appearance and function of their genitalia. This surgery can be done in infancy (as early as three months old), during adolescence, or in adulthood. Parents or caregivers may decide on a surgery for their child, or a person with CAH may choose to have it later in life.

Deciding on surgery is a deeply personal choice. A plastic surgeon with experience in CAH-related procedures can help guide families and individuals through the decision-making process. It’s important to find a surgeon who listens to your concerns, explains all options, and supports you in making the choice that feels right.

You can also discuss surgical options with other providers on your CAH care team, like an endocrinologist, primary care provider, or mental health professional.

6. Mental Health Providers

Mental and emotional health are just as important as physical health. Stress, anxiety, and other emotions can affect overall well-being, making mental health support an essential part of CAH care.

Different types of mental health professionals can provide support:

• Family counselors and social workers help with practical challenges like managing CAH at school or work, handling family dynamics, and finding affordable healthcare.
• Psychologists specialize in mental health concerns such as anxiety, depression, and relationship challenges. They provide counseling and therapy but do not prescribe medication.
• Psychiatrists are medical doctors who can diagnose mental health conditions and prescribe medication for anxiety, depression, sleep disorders, or other concerns. Many also provide therapy in combination with medication management.

Having a mental health professional on your CAH care team can help you navigate the emotional and social challenges that may come with the condition.

7. Gastroenterologist

Some research suggests that people with CAH may be at a higher risk for digestive issues, including gastrointestinal infections. A gastroenterologist is a doctor who specializes in diagnosing and treating conditions that affect the digestive system, including the stomach, intestines, liver, and pancreas.

Gastroenterologists first train as general physicians, then complete three additional years of specialized study in digestive health before taking an exam to become board-certified.

Some of the specialized tests a gastroenterologist performs include:

• Colonoscopies, to examine the colon and screen for disease
• Upper endoscopies, to examine the throat, stomach, and duodenum (upper small intestine)
• X-rays or imaging studies of the digestive tract, to detect blockages, inflammation, or other issues in the stomach and intestines

8. Pulmonologist

Being diagnosed with CAH can also raise one’s risk of respiratory infections. Although common respiratory infections, like the flu or bronchitis, are usually treated by a primary care provider, frequent or long-lasting respiratory issues may require a visit to a pulmonologist — a doctor who specializes in lung health.

Pulmonologists treat conditions like:

• Asthma
• Emphysema
• Lung cancer
• Tuberculosis

A pulmonologist can run tests to assess how well the lungs are functioning and provide recommendations for people who get respiratory diseases frequently. Depending on your concerns, they may recommend a sleep study, lung function test, or imaging tests to find out what’s happening in your or your loved one’s chest and determine how to maintain healthy breathing.

How To Find a CAH Doctor

There are lots of different ways to find the right healthcare providers for CAH. Most people start with specialist referrals from their general practitioner or child’s pediatrician. You can also look online to find providers nearby who accept your insurance or providers who can provide services remotely via telehealth.

Support groups and your CAH network are other good places to find healthcare providers to help with specific needs. Ask for advice from your online community or your local network of family and friends.

Life with CAH requires a little extra care. Fortunately, you don’t have to become an expert yourself. Instead, find the right providers to support you or your loved one.

Talk With Others Who Understand

CAHteam is the social network for people with congenital adrenal hyperplasia and their loved ones. On CAHteam, members come together to ask questions, give advice, and share their stories with others who understand what it’s like.

Which healthcare professionals from this list do you have experience with? What does comprehensive medical care for CAH look like for you or your family? Share your experience in the comments below.