Congenital Adrenal Hyperplasia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Congenital Adrenal Hyperplasia?
An endocrinologist, a hormone doctor, usually manages congenital adrenal hyperplasia. A pediatric endocrinologist treats children. The care team may also include geneticists, social workers, and psychiatrists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of inherited conditions. They affect the adrenal glands. Inherited means the traits pass from parent to child.
- Cortisol helps control blood pressure, blood sugar, and energy. It also helps the body respond to illness and stress.
- Aldosterone helps manage sodium and potassium in the blood and helps control blood pressure.
- Androgens are male sex hormones, such as testosterone. They help growth and development in males and females.
Most people with CAH lack an enzyme called 21-hydroxylase. The adrenal glands need it to make enough cortisol and aldosterone.
There are two main types. Classic CAH is rarer and more serious. It is often found at birth or in early infancy. Its most serious form is salt-wasting CAH, which can be life-threatening without treatment. Simple-virilizing CAH is more moderate. It does not cause life-threatening symptoms. Nonclassic CAH is the mildest and most common form. It is often not found until later childhood or adulthood.
Symptoms
Symptoms depend on the type of CAH and the age when it is found. Females with classic CAH often have ambiguous genitalia at birth. That means the genitals do not look typically female.
Babies with classic salt-wasting CAH often get sick within 2 or 3 weeks after birth. Signs can include:
- Poor feeding or vomiting.
- Diarrhea.
- Dehydration, which means the body has lost too much fluid.
- Shock, which means not enough blood reaches the brain and other organs.
Nonclassic CAH may cause no symptoms or only mild ones. Females may have abnormal or missed periods, severe acne, and extra facial or body hair. Children with CAH grow fast, but they may be shorter than normal as adults, even with treatment.
Causes and who gets it
CAH is inherited. Most people with CAH lack the enzyme 21-hydroxylase. Because cortisol is low, the body pushes the adrenal glands to work harder. They then make more androgen. CAH is a genetic condition, so there is no way to prevent it.
How doctors diagnose it
Babies are screened for CAH at birth with a heel stick blood test. This screening can only find classic CAH. If a person has symptoms of any type of CAH, the provider does an exam and orders tests. Common blood tests include electrolytes (salt levels in the blood), aldosterone, and cortisol.
With a family history of CAH, you can ask about prenatal tests. Amniocentesis and chorionic villus sampling check an unborn baby for CAH.
Treatment
The goal is to bring hormone levels back to normal or near normal. Treatment may include hydrocortisone to replace cortisol. It may also include fludrocortisone to replace aldosterone, and salt supplements. Medicine should be taken daily. People with classic CAH may need extra doses when the body is under stress. Examples are an illness with a high fever, surgery, or a major injury. Adults and parents must learn to give an emergency hydrocortisone shot. Too little medicine when sick can cause an adrenal crisis. Lifelong monitoring is needed. People with nonclassic CAH may not need medicine or may need only low doses.
Steroids cannot be stopped suddenly. Doing so may lead to an adrenal crisis. Too much cortisol medicine can cause weight gain, slowed growth, high blood pressure, and bone loss. Tell your provider if these appear so the dose can be adjusted. Follow your doctor's instructions about your medicine.
People with classic CAH need to wear a medical alert bracelet or necklace. Girls born with ambiguous genitalia may need surgery. It can improve function and create a more typical female appearance. A mental health professional can also help children with CAH and their families.
When to see a doctor
Adrenal crisis is a serious complication of classic CAH. In infants with salt-wasting CAH, signs include confusion, irritability, rapid heart rate, and coma.
Call 911 or go to the emergency room if a baby or person with CAH faints. Also call if the person is confused or hard to wake, or has severe or ongoing vomiting or diarrhea.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type of doctor can help coordinate follow-up with the care team, since lifelong monitoring is needed.
Common questions
Is congenital adrenal hyperplasia life threatening?
It can be, but mainly in the salt-wasting form without treatment. Simple-virilizing CAH does not cause life-threatening symptoms. People with CAH most often have good health.
Can congenital adrenal hyperplasia be prevented?
No. Because CAH is a genetic condition, there is no way to prevent it. Parents with a family history of CAH should consider genetic counseling.
Do people with congenital adrenal hyperplasia need medicine for life?
Most do. Most people with this disorder must take medicine their entire life. People with nonclassic CAH may not need medicine or may need only low doses. If a person with classic CAH stops taking medicine, symptoms will return.
How is congenital adrenal hyperplasia found in newborns?
It is found with newborn screening tests, which use a heel stick to draw blood. This screening can only find classic CAH.
Sources
- MedlinePlus - Congenital adrenal hyperplasia
- Eunice Kennedy Shriver National Institute of Child Health and Human Development - What are the treatments for congenital adrenal hyperplasia (CAH)?
- Eunice Kennedy Shriver National Institute of Child Health and Human Development - What are the symptoms of congenital adrenal hyperplasia (CAH)?
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
