Congenital Adrenal Hyperplasia

The CHOC Urology Center’s Disorders of Sexual Differentiation Program is made up of a team of specialists from pediatric endocrinology, genetics, social work and psychology who work with families whose children have been diagnosed with congenital adrenal hyperplasia (CAH) to create the very best results for each child’s specific diagnosis and needs. We know that with the medical, surgical and psychosocial support we provide, children with congenial adrenal hyperplasia (CAH) can lead full and healthy lives and enjoy a normal life expectancy.

What is CAH?

CAH is one of the most common disorders of sexual differentiation and affects one in 5,000 to 15,000 babies in the United States and Europe. It is genetic and the most common cause of irregular genitalia in newborns. Girls with CAH may have “ambiguous genitalia” which means it may be difficult to tell if the genitals are male or female.

CAH is caused by adrenal glands that do not work correctly. The adrenal glands are located on top of each kidney in the body and release three different types of steroid hormones into the body:

• Glucocorticoids, which regulate sugar metabolism
• Mineralocoricoids, which control the body’s fluids and electrolytes
• The sex steroid hormones, estrogen and androgen (testosterone), which aid in the formation of the sex organs

In children with CAH, the glucocorticoid involved is cortisone and the mineralcorticoid involved is aldosterone. CAH causes an enzyme deficiency that blocks the normal pathways for the adrenal hormones. This decreases the body’s ability to produce cortisol and aldosterone. In turn, the decrease causes an overproduction of androgens. When there are too many androgens in the body, the female fetus experiences a virilization (or masculinaization). This masculinization is the cause of the ambiguous genitalia in females. While there can be increased masculinization in a male with CAH it is usually less noticeable than in females.

There are two types of CAH. 75% of children with CAH are diagnosed as “salt-wasters”. This means that the child’s adrenal glands are not producing enough aldosterone, which can cause a child’s body to rapidly loose salt. These babies are diagnosed shortly after birth and must be given urgent steroid replacement, or they risk going into shock. The remaining 25% are not salt-wasters and may not be diagnosed as early in life.

What are the symptoms of CAH?

Children with CAH who are “salt-wasters,” will show symptoms of the salt deficiency immediately after birth with signs of shock. These children are immediately treated with steroid replacement therapy.

Boys at birth generally do not appear affected if they are not “salt-wasters”. They may not show signs of CAH until they are a few years old. Girls, on the other hand, may display atypical genitalia at birth, such as an enlarged clitoris or labia that resemble the wrinkled or fused appearance of a scrotum. Generally the internal reproductive organs in females (ovaries, uterus and fallopian tubes) are not affected. All children are affected differently and to different severity by CAH. Some females will also go undiagnosed at birth and will be noted to have CAH at an older age.

Older male children around the ages of 2 or 3 years old may have early onset puberty in which their voice may deepen, pubic hair may appear or their penis may enlarge. Older females may present with abnormal menstrual periods, a failure to menstruate, a deepened voice, excessive facial hair growth or early appearance of pubertal body hair.

Beyond the possible diagnosis of CAH after birth based on genitalia exam, an infant may also show symptoms of CAH in the form of weight loss, vomiting, dehydration or failure to thrive. In some cases CAH can cause a life-threatening condition called an adrenal crisis. This occurs when there is not enough cortisol in the body. If a child is diagnosed with CAH their hormone levels will be thoroughly examined and monitored afterwards by a CHOC pediatric endocrinologist.

How is CAH diagnosed?

CAH is an autosomal recessive disorder that tends to run in families. In order for a child to be affected by the disorder, both parents must carry a gene that is specific to the disorder, and they both must pass this gene onto their child. CAH is also seen more heavily in certain populations, such as Eskimos and Ashkenazi Jews. After being diagnosed with CAH it is recommended that the family see a genetics specialist that is part of our Disorders of Sexual Differentiation Program.

The diagnosis of CAH is made by both physical examination and blood tests. A child may also receive an ultrasound to better understand their internal anatomy. The blood tests completed after birth will measure the levels of the hormones produced by the adrenal glands: cortisol, aldosterone and androgen. An additional blood test will identify the karyotype, which determines the number and types of chromosomes present, such as 46XX (normal female) or 46XY (normal male).

How will CAH affect my child?

CAH generally has a more profound effect on females than males. Since CAH causes an increase in androgens (testosterone) females will tend to be more physically affected than their male counterparts. Females will generally need hormone therapy and corrective genital surgery should the family decide to move forward with any surgery at all. Males will also need close medical follow-up, but they generally do not need surgery or hormone therapy. A child who has proper medical, emotional and surgical support will most likely live a healthy, normal life expectancy.

Sexual function for both males and females as adults is generally normal after any surgical intervention that may be necessary. Adults with CAH may have a lower fertility rate than those without CAH but this will vary depending on the severity and the particular genetics of the affected person. The fertility and sexual function of each patient with CAH is discussed in great detail specific to the child’s specific CAH symptoms with our specialists as part of our Disorders of Sexual Differentiation Program.

A good support system is vital for the physical and emotional health of children with CAH as they grow and develop. Our center works with families to ensure that the child and caregivers receive the psychological support they need.

How is CAH treated?

The treatment of CAH will vary depending on the severity of the child’s diagnosis.

Immediately following the diagnosis of CAH, the child is placed on hormone replacement medication to level the hormones in the body. This is very important to do immediately after birth as 75% of children with CAH are deemed “salt-waters”. This means that the child’s adrenal glands are not producing enough aldosterone which can cause a child’s body to rapidly loose salt. These babies are diagnosed shortly after birth and must be given urgent steroid replacement, or they risk going into shock.

After the child’s hormones are stabilized, our team’s goal is to normalize hormone levels through hormone replacement therapy. This therapy is provided to all children with CAH, regardless of whether they are “salt-wasters” or not.

Surgery is also an option for females with atypical genitalia. Surgery is generally not needed in males. Generally, surgery is carried out after the child is 6 months old due to the increased safety of general anesthesia after this age. Our specialists work one-on-one with each family and discuss the types and timing of genital reconstructive surgery. Working together, we determine what is right for each individual child and the degree of masculinization that has occurred. There have been many advancements made in genital reconstructive surgery which now result in female genitalia that is both functional and normal.

If a child is not treated for CAH and is non- “salt wasting” it is likely that the child’s features will become more masculine as she ages. Additionally, there may be complications from the uncontrolled adrenal hormone levels.