Congenital adrenal hyperplasia

There are two major types of congenital adrenal hyperplasia: Classic congenital adrenal hyperplasia. This more severe form of the disease is usually detected in infancy or early childhood. Nonclassic congenital adrenal hyperplasia. This milder form usually develops in late childhood or early adulthood. Classic congenital adrenal hyperplasia The most obvious sign of classic congenital adrenal hyperplasia in girls is often abnormal-appearing genitals that look more male than female, which may include an enlarged clitoris a condition called ambiguous external genitalia. Other signs and symptoms in girls also reflect exposure to elevated levels of male sex hormones (androgens) while in the womb. The condition is not typically as visually evident in baby boys, although some affected male infants have an enlarged penis. Signs and symptoms of classic congenital adrenal hyperplasia in infants include: Ambiguous genitalia in girls Enlarged penis in boys Poor weight gain Weight loss Dehydration Vomiting Signs and symptoms of classic congenital adrenal hyperplasia in children and adults include: Very early puberty Rapid growth during childhood, but shorter than average final height Irregular menstrual cycles in women Infertility in women and men

Nonclassic congenital adrenal hyperplasia This form of congenital adrenal hyperplasia is milder and usually develops in late childhood or early adulthood. Signs and symptoms are typically most apparent in adolescent girls and women and often include: Irregular or absent menstruation Masculine characteristics such as facial hair, excessive body hair and a deepening voice Infertility In both females and males, signs and symptoms of nonclassic congenital adrenal hyperplasia also may include: Early puberty Rapid growth during childhood, but shorter than average final height Severe acne Low bone density High blood cholesterol Obesity

Definition
By Mayo Clinic staff

Adrenal glands
Congenital adrenal hyperplasia (kun-JEN-i-tul uh-DRE-nul hi-pur-PLA-zhuh) is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone). Congenital adrenal hyperplasia can cause problems with normal growth and development in children including normal development of the genitals. It affects both males and females. Although congenital adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment.

Tests and diagnosis

By Mayo Clinic staff Tests to diagnose congenital adrenal hyperplasia include: Physical exam. Your child's doctor will examine your child and evaluate symptoms. If, based on these findings, the doctor suspects congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine tests. Blood and urine tests. Tests used to diagnose congenital adrenal hyperplasia measure levels of hormones manufactured by the adrenal glands cortisol, aldosterone and androgens. A diagnosis can be made when there are abnormal levels of these hormones. In many states, doctors are required to conduct hormonal tests for congenital adrenal hyperplasia in newborns during the first few days of life. Blood is drawn with a heel prick of the newborn and analyzed. Prenatal testing Doctors have the tools to screen and diagnose congenital adrenal hyperplasia in fetuses. These tools are used most often when siblings have the disease or family members are known to carry the gene defect. If you're pregnant and have the condition or a family history of the condition, your doctor may recommend one of the following tests: Amniocentesis. This procedure uses a needle to withdraw a sample of cells from the amniotic fluid in the womb and determine in the laboratory whether the condition is present. Chorionic villus sampling. This test involves withdrawing cells from the placenta for analysis in the laboratory. If the condition is diagnosed before birth, treatment can be started in the womb. Prenatal diagnosis and therapy may be able to reduce the risk of complications. Testing to determine a child's sex After birth, your child may have ambiguous external genitalia, so you may not sure of your child's sex. In that case, genetic blood tests can analyze chromosomes in a test called karyotyping to determine the sex of your child. In addition, a pelvic ultrasound can be used to produce images of female reproductive structures the cervix, uterus and fallopian tubes to confirm whether your child is a girl.

Treatments and drugs

By Mayo Clinic staff To treat congenital adrenal hyperplasia, it's best to get a referral to a specialist in childhood hormonal issues (pediatric endocrinologist). Treatments include: Medications. In most cases, your child's doctor will prescribe replacement hormone medication to boost the levels of deficient hormones in your child and restore them to normal levels. For example, your child may take an oral drug such as hydrocortisone or dexamethasone to replace cortisol and fludrocortisone to replace aldosterone on a daily basis. At times, children with congenital adrenal hyperplasia need multiple drugs, with even higher doses prescribed during periods of illness or severe stress, including surgery. Steroid-type replacement medications may cause side effects, particularly if the doses are high and are used long term. Your doctor will monitor your child for medication side effects, such as the loss of bone mass and impaired growth, and will also order regular blood tests to see if medications need adjusting. Keep all scheduled appointments so that your doctor can regularly check your child's progress, including monitoring changes in height, weight and blood pressure. Treatment for girls with classic congenital adrenal hyperplasia involves a careful balance of the right amount of cortisone medications. Adequate cortisone replacement is needed to suppress androgens, allowing for normal height and minimizing masculine characteristics. However, too much cortisone may cause Cushing's syndrome. Your doctor will schedule regular tests to monitor your child for these side effects. As adults, some men and women with congenital adrenal hyperplasia are able to stop taking their replacement hormone medications. However, others, particularly people with the classic form of the disease, may need to take replacement hormone medications indefinitely. Surgery. In some infant girls who have ambiguous external genitalia, doctors recommend reconstructive surgery to correct the appearance and function of the genitals. This procedure may involve reduction of the clitoris size and reconstruction of the vaginal opening. The surgery is typically performed between 2 and 6 months of age. Prenatal management Sometimes, treatment for congenital adrenal hyperplasia can begin before your child is born.

When congenital adrenal hyperplasia is diagnosed in the fetus, one option is for the pregnant mother to take a powerful corticosteroid drug, such as dexamethasone, before giving birth. Corticosteroids can cross the placenta and suppress the activity of the fetus's own adrenal glands. By reducing the secretion of male hormones (androgens), this approach may allow female genitals to develop normally. It can also reduce the masculine features that may develop later in female fetuses. When the fetus is male, doctors may recommend a shorter course of lower dose dexamethasone treatment during pregnancy to keep the adrenal glands functioning as normally as possible. Although the use of dexamethasone can be effective, many doctors prescribe it with caution, as there's no clear evidence yet about the long-term safety of this drug in children with this condition. The medication can also cause side effects in the pregnant mother, including excess weight gain, mood swings and high blood pressure. Prognosis Many children with congenital adrenal hyperplasia can successfully manage the condition by staying on their replacement hormone medications. They grow up to lead lives in good health and with a normal life expectancy. However, they may be shorter than their parents. And both men and women may have fertility problems in adulthood. Girls who have corrective genital surgery may need further cosmetic surgery later in life. When they become sexually active, they're more likely than are women who have not had genital surgery to experience sexual problems such as pain during intercourse. Some advocates of children with ambiguous genitalia argue that corrective surgery shouldn't be performed until a child is old enough to understand the risks and choose his or her own gender assignment. However, most experts recommend performing corrective genital surgery when girls are very young because the surgery is technically less challenging than in later years. Before making decisions about the best treatment approach for your daughter, talk with your doctor about these issues. Working together, you and your doctor can make informed choices that will help your daughter thrive.