Congenital adrenal hyperplasia is a genetic disorder affecting the adrenal glands, with symptoms like vomiting, difficulty gaining weight, and precocious (early) puberty.

This condition is present from birth and is caused by a mutation in the genes responsible for the production of hormones in the adrenal glands, such as cortisol, aldosterone, and testosterone.

Treatment for congenital adrenal hyperplasia (CAH) involves a multidisciplinary team that includes the child's pediatrician and a pediatric endocrinologist, among others. Treatment should be initiated as soon as possible and usually involves the use of medications and surgery.

woman holding a baby at a doctor's appointment

Main symptoms

The most common symptoms of congenital adrenal hyperplasia are:

Difficulty gaining or losing weight;
Precocious (early) puberty or absence of puberty;
Excess facial hair and virilization (exaggerated male characteristics) in genetically male individuals;
Ambiguous genitalia in genetically female individuals;
Irregular or absent periods;
Short stature in adulthood.

Insufficient production of aldosterone and cortisol in the adrenal glands can lead to acute adrenal crisis, characterized by symptoms like severe vomiting, dehydration, confusion, low blood pressure, hypoglycemia, and hypovolemic shock.

Can people with congenital adrenal hyperplasia get pregnant?

Congenital adrenal hyperplasia can be associated with decreased fertility in both males and females, however assisted reproductive technology can make pregnancy possible.

Confirming the diagnosis

The diagnosis of congenital adrenal hyperplasia is made by a neonatologist or pediatrician after birth based on the results of a newborn blood test (heel stick).

To confirm the diagnosis, a doctor may order tests to measure the levels of cortisol, aldosterone, and 17-hydroxyprogesterone (17-OHP) in the blood, as well as checking glucose levels and electrolytes.

A physical exam should also be performed, as characteristics like ambiguous genitalia may be identified on exam. Other tests like a pelvic ultrasound and genetic testing may be done to determine the sex of the baby.

What results suggest CAH on the newborn screening?

A diagnosis of congenital adrenal hyperplasia is suspected when levels of 17-OHP are elevated on the newborn heel stick. Impaired production of cortisol in the newborn allows 17-OHP to accumulate.

This result can suggest that the baby has CAH, however other tests are needed to confirm the diagnosis.

Different types

The main types of congenital adrenal hyperplasia are:

1. Classic salt-wasting congenital adrenal hyperplasia

Classic salt-wasting congenital adrenal hyperplasia is the most severe form of CAH and is caused by a total or near total lack of production of aldosterone and cortisol by the adrenal glands.

This type of CAH can result in acute adrenal crisis, which is a potentially life-threatening condition requiring immediate treatment.

Genetically female babies that are born with this type of CAH may present with ambiguous genitalia, that is, genitalia that is not well formed or that is not clearly female.

2. Classic simple virilizing congenital adrenal hyperplasia

Classic simple virilizing congenital adrenal hyperplasia is characterized by low levels of cortisol and an increase in androgens, such as testosterone.

This type of CAH can cause ambiguous genitalia, difficulty gaining weight, and precocious (early) puberty.

3. Non-classic congenital adrenal hyperplasia

Non-classic congenital adrenal hyperplasia is the mildest form of CAH, with symptoms appearing in childhood and sometimes not until puberty.

Typically, children with this type of CAH present with early development of pubic hair, rapid growth, short stature, and severe acne.

Genetically female individuals may present with irregular or absent periods in adolescence or adulthood, as well as facial hair and infertility.

Possible causes

Congenital adrenal hyperplasia is caused by mutations or deletions in the CYP21A gene that is responsible for production of the enzyme 21-hydroxylase, which in turn controls the production of hormones by the adrenal glands.

The production of cortisol and aldosterone may be decreased, or the production of testosterone increased, based on the type of genetic mutation.

CAH is an autosomal recessive genetic disorder, meaning that a child must be born with two copies of the defective gene (one from the mother, one from the father) in order to have the condition.

Treatment options

Treatment of congenital adrenal hyperplasia usually involves a multidisciplinary team consisting of a pediatrician and a pediatric endocrinologist, among others. The goal of treatment is to correct hormone deficiencies and prevent complications. Treatment will vary depending on the type of CAH.

Treatment of congenital adrenal hyperplasia typically consists of:

1. Medications

Medications for the treatment of congenital adrenal hyperplasia are indicated to correct hormone deficiencies in the body.

The most common medications for CAH are:

Glucocorticoids, like hydrocortisone, dexamethasone, or prednisone, to restore cortisol levels and control the excess production of androgens like testosterone;
Mineralocorticoids, like fludrocortisone, to restore aldosterone levels and prevent acute adrenal crisis.

These are life-long medications that are necessary for the production of adrenal gland hormones that are essential for normal functioning of the body.

2. High salt diet

A diet high in salt (sodium) may be indicated in cases of classic salt-wasting congenital adrenal hyperplasia.

The goal of this diet is maintain the balance of electrolytes and water in the body in order to prevent an adrenal crisis.

In some cases, a doctor may recommend salt capsules to help correct a salt deficiency.

3. Medical follow up

Regular medical appointments are fundamental in evaluating the development of the baby or child, with the goal of promoting normal growth and preventing electrolyte imbalances that can cause acute adrenal crisis.

Regular follow up visits should be kept with the pediatrician and pediatric endocrinologist, who will order tests to evaluate the levels of adrenal gland hormones and electrolytes.

Adolescents and adults with congenital adrenal hyperplasia should continue to be seen by an endocrinologist to help maintain reproductive function and prevent side effects related to treatment with corticosteroids.

4. Hospitalization

Hospitalization is indicated in cases of acute adrenal crisis, which requires treatment with normal saline and glucose through an IV.

Corticosteroids like hydrocortisone may also be administered through an IV as part of initial treatment, followed by oral corticosteroids to be continued after discharge.

5. Surgery

Surgery for congenital adrenal hyperplasia is indicated in childhood and adolescence for correction of ambiguous genitalia and, if possible, preservation of fertility.