What is CAH?
Congenital Adrenal Hyperplasia (CAH) is a condition of the adrenal glands that people are born with. The adrenal glands sit on top of the kidneys and make hormones. Hormones are chemical signals. The adrenal glands make three different types of hormones: cortisol, aldosterone and androgens.
- Cortisol controls energy and blood sugar levels.
- Aldosterone controls salt and water levels.
- Androgens are a group of hormones, not a single hormone. Androgens from the adrenal glands control body changes during puberty. These changes include body hair in the armpits and genital area, body odor and acne.
CAH results when the adrenal glands cannot make one or more of these hormones. Most commonly, the adrenal glands cannot make enough cortisol and aldosterone and make too much androgen.
CAH can be masculinizing, feminizing, salt-wasting or non-salt-wasting.
- Masculinizing: The adrenal glands in some people with CAH make too much androgen. This can make their genitals look more male.
- Feminizing: The adrenal glands in some people with CAH make too little androgen. This can make their genitals look more female.
- Non-Classic (Late-Onset): The adrenal glands in some children with CAH start making too much androgen later in childhood. Boys and girls with this form have typical genitals at birth. They can have puberty changes early. This form is also called late-onset CAH.
- Salt-Wasting: The adrenal glands in some people with CAH make too little of the hormone aldosterone. This causes salt to be lost in the urine and leads to low blood pressure, requiring medication to be taken.
- Non-Salt Wasting: The adrenal glands in some people with CAH make enough aldosterone. Usually, people with non-salt wasting CAH have milder symptoms.
CAH that causes changes in the genitals before birth is also called difference or variation in sex development (DSD or VSD). DSD or VSD are a group of conditions in which the genitals or reproductive parts do not develop in a typical way before birth.
What Causes CAH?
People with CAH are born with an enzyme that is missing or not working properly. Enzymes are proteins that cause chemical changes. The adrenal glands need enzymes to make hormones from their building blocks. In the most common type of CAH, the enzyme “21-hydroxylase” is missing or not working. Here, we are talking mainly about the most common type of CAH.
- If the enzyme is missing or not working at all, the adrenal gland cannot make cortisol or aldosterone from their building blocks.
- If the enzyme is only partially working, the adrenal gland makes less cortisol than the body needs. The adrenal gland may still make enough aldosterone to prevent salt-wasting.
- If the enzyme cannot change the building blocks into cortisol and aldosterone, they get changed into more androgen instead.
When Is CAH Suspected?
Physical Exam
Male babies with CAH usually look typical at birth. The extra androgens do not usually change the way their genitals look.
Female babies with CAH may have changes in the way their genitals look. The clitoris may be enlarged. The clitoris is a sensitive part of the body involved in sexual arousal. Their labia may be fused. The labia are folds of skin. This may make the labia look like a scrotum.
CAH does not affect the reproductive parts inside peoples' bodies.
Children with non-classic CAH may not show any signs until they are older.
In children and adults with CAH, the extra male hormones may cause the following symptoms:
- rapid growth
- advanced bone age (their bones mature too fast)
- short height as adults
- early appearance of and / or excess acne and body hair
- difficulties with periods or getting pregnant
Adrenal Crisis
Some people have a more severe form of CAH. This happens when the enzyme is missing or not working at all. People with this form of CAH make very low or no cortisol and aldosterone. This can cause an “adrenal crisis.” This can occur at any age. It is very serious, and can be life threatening.
Signs of adrenal crisis include:
- poor feeding or appetite
- vomiting
- diarrhea
- sleepiness
- weak cry in infants
- dehydration
- low blood pressure
- weight loss
How Is CAH Diagnosed?
The doctors may do tests, such as:
- Newborn screen: This is a blood test that looks for many different conditions, including CAH. All infants are tested in the first one to three days of life, even if they are not sick.
- Karyotype: This is a blood test that looks as basic genetic information.
- Genetic testing: This is a blood test that looks for changes in genes (instructions) that cause CAH.
- Hormone testing: These are blood tests that check what hormones the adrenal gland is making and how much.
- Pelvic ultrasound: This is an imaging test that looks for the gonads and for a uterus. The gonads are glands that make hormones, eggs, ovaries and testicles.
- Laparoscopy: This is a surgery using a small camera. The surgeon looks for the reproductive parts inside the body.
How Do We Treat People with CAH?
Treatment for people with CAH is life-long. It requires daily hormone replacement (medications).
- Oral hydrocortisone (Cortef) replaces cortisol.
- Oral fludrocortisone (Florinef) replaces aldosterone. It treats salt-wasting CAH.
Hormone replacement helps decrease androgen levels.
Parents may ask for surgery. Our approach to surgery is individualized. Our team talks with parents about all of the options and helps them make decisions. Families should take time to consider the options carefully.
Care By the Team
All children with CAH have routine office visits with an endocrinologist. Endocrinologists are doctors who treat patients with hormone conditions. These doctors check their patients’ growth and hormone levels. Endocrinologists prescribe the medicines that replace the missing hormones to treat CAH.
If a child is born with genitals that are not typical, they may also see other doctors. These doctors may include gynecologists and urologists. Gynecologists care for female reproductive parts inside and outside the body.
The reproductive parts outside the body are called “genitals.” Urologists treat both male and female genitals and urinary tracts. The urinary tracts are the body parts that make urine.Our DSD team is made up of different types of doctors. Our DSD team also includes psychologists, geneticists, genetic counselors, child life specialists, social workers and ethicists. We provide care at all the stages of growing up, and treatment depends on each patient’s individual needs. Our team helps patients and families understand treatment options, answers questions, and addresses concerns. Concerns can be related to emotions, behaviors, development or adjustment. Our team also provides support and counseling. We want all our patients and families to experience the best quality of life possible.
Illness and Emergencies
"Stress dose" during illnesses
- Illness or injury affects your body. Cortisol helps the body recover from serious illness or injury, so medication needs to be given. The following are examples of serious illnesses or injuries:
- Fever higher than 100 degrees F
- Severe throat, ear, lung or urinary tract infections
- Broken bones and other traumatic injuries
- Vomiting or diarrhea
People with CAH need higher doses of cortisol to heal from serious illnesses or injuries. This extra cortisol is known as the “stress dose.” It is usually given by mouth. When a person with CAH has vomiting or diarrhea, the stress dose needs to be given as an injection (shot) into the muscle. The stress dose may need to be given for several days. We teach families when and how to give stress doses for illness.
When to call the doctor
Emergencies
Shots of stress dose cortisol are given in emergencies. If your child looks sick and is pale, sweaty, breathing fast, unable to respond, unconscious, or has a serious injury, this is an EMERGENCY. Your child could die if they do not receive a stress dose cortisol shot immediately. In an emergency, you should:
GIVE THE CORTISOL SHOT AND CALL 911.To be prepared for an emergency:
- You should always carry a shot of cortisol with your child. This is just in case.
- Your child should wear personal identification that says they have CAH. One type of personal identification is Medic-Alert bracelet.
- All of your child’s caregivers should save your child's doctor’s phone number in their cell phones.
What To Expect
With appropriate treatment, children with CAH grow up healthy and are able to do everything children without CAH can do. They participate fully in school activities, sports and social events. Girls and women with CAH can have regular periods and can have children. Treatment is life-long, and adolescents and adults need to continue to see their endocrinologist and / or medical team and take their medicine. With good care, people with CAH are healthy and do well.
