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 conditions, 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 to help people with CAH.

CAH is caused by deletions or variations (changes) 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 carry a genetic variant linked to CAH, they won’t have the condition themselves, but there is a 25 percent chance with each pregnancy that their child will be born with CAH. Parents may find out they’re carriers after having a child with CAH, through preconception genetic testing, or during testing for another reason.

When two confirmed carriers are expecting a baby, prenatal genetic testing can help determine whether the fetus has CAH. This allows for early planning and support. Common prenatal tests include:

• Chorionic villus sampling — Taking a small sample of cells from the placenta
• Amniocentesis — Testing the amniotic fluid surrounding the baby
• Noninvasive prenatal testing — 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 the family.

Genetic counselors are another valuable resource. Although they’re 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 — A hormone that 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 sexual 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, and dexamethasone) and, in most 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 with dexamethasone for fetuses at risk of CAH remains controversial due to ongoing medical and ethical debates about its potential risks and uncertain long-term benefits.

3. Neonatologists

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 became routine, an estimated 4 percent of babies with classic CAH died due to adrenal crisis caused by severe salt loss and low cortisol levels. Early detection and prompt treatment have significantly reduced this risk.

Early diagnosis of CAH through newborn screening also has several other benefits:

• Less severe hyponatremia (low sodium levels), reducing 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 genital and urinary tracts and the bladder. CAH can cause changes to the anatomy of the urinary tract that can lead to problems with urinary function. If you or your child develops urinary tract issues, you may be referred to a urologist. Some urologists may also perform surgery to correct problems with urinary or genital function.

People with CAH may also 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.

5. Surgeons

Some people with CAH have reconstructive surgery to adjust the appearance and function of their external genitalia. This surgery can be done in infancy (as early as 3 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 surgeon who specializes in urology, gynecology, or pediatric surgery and has 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, a primary care provider, or a mental health professional.

6. Gynecologists

Gynecologists, or specialists in women’s reproductive health, can be an important part of the care team for CAH. According to the Cares Foundation, this may be especially true during adolescence, when girls with CAH may begin to experience issues with their reproductive systems (such as irregular periods) or need follow-up care after genital surgery.

Gynecologists can discuss and treat:

• Problems or concerns about genitalia anatomy and function
• Irregular menstrual periods
• Issues with sexual health and fertility

Gynecologists can also take the lead during CAH care and coordinate closely with other care team members.

7. 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 don’t 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 along 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.

8. Gastroenterologists

Some research suggests that people with CAH may be at a higher risk of 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. Not everyone with CAH will need to see a gastroenterologist, but they may be part of the care team if digestive symptoms become a concern.

9. Pulmonologists

CAH may also raise a person’s risk of respiratory infections. Most common respiratory infections, such as the flu or bronchitis, can be treated by a primary care provider. However, if someone experiences frequent or long-lasting respiratory issues, a pulmonologist — a doctor who specializes in lung health — may be consulted.

How To Find a CAH Doctor

There are lots of 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 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.

Join the Conversation

On CAHteam, people share their experiences with congenital adrenal hyperplasia, get advice, and find support from others who understand.

Which healthcare professionals have been most helpful in your CAH journey? Let others know in the comments below.