Congenital adrenal hyperplasia
Congenital adrenal hyperplasiaArticle Sections
DefinitionCongenital 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. Adrenal glandsPerched atop each of your kidneys, your adrenal glands produce hormones that help regulate your metabolism, immune system, blood pressure and other essential functions. Although small, these glands ...  SymptomsThere are two major types of congenital adrenal hyperplasia:
Classic congenital adrenal hyperplasia 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:
Signs and symptoms of classic congenital adrenal hyperplasia in children and adults include:
Nonclassic congenital adrenal hyperplasia Signs and symptoms are typically most apparent in adolescent girls and women and often include:
In both females and males, signs and symptoms of nonclassic congenital adrenal hyperplasia also may include:
When to see a doctor CausesCongenital adrenal hyperplasia affects your adrenal glands, a pair of walnut-sized organs located above your kidneys.
Inherited defect affects cortisol production Most of the problems caused by classic congenital adrenal hyperplasia are related to a lack of cortisol, which plays an important role in regulating your blood pressure, maintaining blood sugar and energy levels, and protecting your body against stress. A child with classic congenital adrenal hyperplasia may also experience:
The condition is passed along in an inheritance pattern called autosomal recessive. Children who have the disorder have two parents who either have the condition themselves or who are both carriers of the genetic mutation that causes the condition. Adrenal glandsPerched atop each of your kidneys, your adrenal glands produce hormones that help regulate your metabolism, immune system, blood pressure and other essential functions. Although small, these glands ... Autosomal recessive inheritance patternTo have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one ...  Risk factorsIf you and your spouse have congenital adrenal hyperplasia or if both of you are carriers of the genetic defect for the disease, your child is at increased risk of having the condition. People in some ethnic groups are more likely to develop this disorder, particularly Ashkenazi Jews. The condition is also more common among Hispanics, Yugoslavs and Eskimos. ComplicationsBabies, children or adults with classic congenital adrenal hyperplasia could experience a life-threatening "adrenal crisis," due to inadequate production of cortisol from the adrenal glands. An adrenal crisis can result in a seriously low level of sodium in the blood, diarrhea, vomiting, dehydration, low blood sugar levels and shock. People experiencing an adrenal crisis need immediate treatment. Adrenal crisis does not occur in adults with the nonclassic form of congenital adrenal hyperplasia. Long-term complications of congenital adrenal hyperplasia may include:
Preparing for your appointmentClassic congenital adrenal hyperplasia is usually detected at birth or in early infancy when baby girls show ambiguous genitalia or when babies of both sexes show signs of severe illness. If your baby is vomiting, lethargic or showing other signs of severe illness, seek immediate medical care. In nonclassic congenital adrenal hyperplasia, you may first make an appointment when you notice signs and symptoms of early puberty — sometimes very early — in your toddler or older child. After your family doctor or your child's pediatrician evaluates your child, your child may be referred to a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands (endocrinologist). In some cases, signs and symptoms of nonclassic congenital adrenal hyperplasia may not develop in women until the teenage or young adult years. Indications of the condition in these cases may include irregular or lack of menstruation, unwanted male-pattern hair growth in women (hirsutism) or infertility. Here's some information to help you prepare for your appointment. What you can do
For congenital adrenal hyperplasia, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
What to expect from your doctor
Tests and diagnosisTests to diagnose congenital adrenal hyperplasia include:
Prenatal testing If you're pregnant and have the condition or a family history of the condition, your doctor may recommend one of the following tests:
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 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 drugsTo treat congenital adrenal hyperplasia, it's best to get a referral to a specialist in childhood hormonal issues (pediatric endocrinologist). Treatments include:
Prenatal management 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 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. Coping and supportFemales with classic congenital adrenal hyperplasia — who are exposed in the womb to elevated levels of male sex hormones — are more likely than are girls without this condition to prefer typically male-gender roles and activities throughout their life. They may be more likely to identify as bisexual or homosexual. Sexual problems are common among girls and women with congenital adrenal hyperplasia, including:
Early and steady support from family and health care providers can help girls grow up to have normal self-esteem and a satisfying social life. Make sure counseling is included in your child's treatment plan, and that you and your child's health care providers pay attention to her mental and emotional health as well as her physical well-being. You can also help your child by resisting the urge to over-protect her, which may only convince her that she is different or limited. If you're having trouble coping with your child's condition or feel overwhelmed by worry, ask your doctor to refer you to a mental health professional. An experienced therapist can help you deal with your feelings and develop healthy parenting strategies. PreventionDoctors often recommend genetic counseling for parents who have congenital adrenal hyperplasia and are contemplating starting a family. The disorder can be diagnosed in fetuses, and prompt treatment, most often beginning in the first or second trimester, can reduce or even eliminate symptoms after birth. Last Updated: 2011-03-04 © 1998-2013 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. A single copy of these materials may be reprinted for noncommercial personal use only. "Mayo," "Mayo Clinic," "MayoClinic.com," "Mayo Clinic Health Information," "Reliable information for a healthier life" and the triple-shield Mayo logo are trademarks of Mayo Foundation for Medical Education and Research.
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