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 Congenital adrenal hyperplasia

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PostSubject: Congenital adrenal hyperplasia   Congenital adrenal hyperplasia EmptySun Jan 23, 2011 5:58 pm

Congenital adrenal hyperplasia
Filed under: Children's Health
Congenital adrenal hyperplasia is a family of genetic conditions affecting your adrenal glands. It can interfere with normal growth and development in children — including normal development of the genitals. It affects both males and females.

In children and adults with congenital adrenal hyperplasia, the adrenal glands typically don't produce enough of the hormone cortisol.

Congenital adrenal hyperplasia may also result in the adrenals making abnormal levels of two other classes of hormones — mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).

Although congenital adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment.

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Symptoms

There are two major types of congenital adrenal hyperplasia:

* Classic congenital adrenal hyperplasia. This more severe form of the disease affects very young children and newborns.
* Nonclassic congenital adrenal hyperplasia. This milder form usually develops in late childhood or early adulthood.

Classic congenital adrenal hyperplasia
This form of congenital adrenal hyperplasia is usually detected in infancy or early childhood. In girls, signs and symptoms of this condition reflect the influence of being exposed to elevated levels of male sex hormones (androgens) while in the womb. 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.

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
* Failure to regain birth weight
* 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
* Nausea
* Fatigue
* Low blood pressure
* Low bone density
* High blood cholesterol
* Obesity
* Slow recovery from infections, such as colds

When to see a doctor
Contact your doctor if your child has signs and symptoms that seem to suggest congenital adrenal hyperplasia. Also, if you're pregnant and may be in a high-risk group for congenital adrenal hyperplasia because of your own medical history or your ethnicity, talk with your doctor about the advisability of genetic counseling. Your doctor can also discuss with you possible treatment of your fetus before birth (prenatal treatment).

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Causes

Congenital adrenal hyperplasia is a condition that affects your adrenal glands, a pair of walnut-sized organs located above your kidneys.

Inherited defect affects cortisol production
The cause of congenital adrenal hyperplasia is an inherited genetic defect that results in decreased formation of one of the many enzymes that are used in the adrenal glands' production of cortisol. The enzyme most commonly deficient in congenital adrenal hyperplasia is 21-hydroxylase. Congenital adrenal hyperplasia may sometimes be called 21-hydroxylase deficiency. The severity of congenital adrenal hyperplasia is influenced by the degree of enzyme deficiency.

When signs and symptoms arise, they're most often associated with declines in the manufacture 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 congenital adrenal hyperplasia may also experience:

* A decline in the adrenal glands' production of aldosterone. This can lead to low blood pressure, lower sodium level and higher potassium level. Sodium and potassium normally work together to help maintain the right balance of fluids in your body, transmit nerve impulses, and contract and relax your muscles.
* Excess production of the male sex hormones (androgens such as testosterone). This can result in shortened stature, early puberty in boys, abnormal genital development in girls and severe acne. Signs and symptoms may vary, depending on which specific gene is defective.

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.

©
Risk factors

If 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. There's also a higher prevalence among Hispanics, Italians, Yugoslavs and Eskimos.

©
Complications

Babies, 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 prompt treatment.

Adrenal crisis does not occur in adults with the nonclassic form of congenital adrenal hyperplasia.

©
Preparing for your appointment

Classic 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, he or she may refer your child to a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands (endocrinologist).

Here's some information to help you get well prepared for your appointment.

What you can do

* Find out if your child needs to follow any pre-appointment restrictions, such as changing his or her food or liquid intake to get ready for blood and urine tests.
* Write down any signs and symptoms your child has been experiencing, and for how long.
* Make a list of your child's key medical information, including recent illnesses your child has had and the names of any medications he or she is taking.
* Write down the questions you want to be sure to ask your doctor.

For congenital adrenal hyperplasia, some basic questions to ask your doctor include:

* What is likely causing my child's signs and symptoms?
* Are there any other possible causes for these symptoms?
* What kinds of tests does my child need?
* What treatment approach do you recommend?
* Will treatment slow down the rate at which my child is sexually maturing?
* What are the possible side effects of treatment?
* How will you monitor my child's health over time?
* What is my child's risk of long-term complications?
* Do you recommend that my child receive psychological counseling?
* Do you recommend that our family meet with a genetic counselor?

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
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to talk about in-depth. Your doctor may ask:

* What are your child's symptoms?
* When did your first begin noticing these symptoms?
* Do your child's symptoms include feeling fatigued or faint?
* Do your child's symptoms include feeling nauseous?
* Is your child experiencing any social problems related to his or her early sexual development?
* Has anyone in your family been diagnosed with congenital adrenal hyperplasia?
* Are you planning to have more children?

©
nTests and diagnosis

Your child's doctor first conducts a physical exam and evaluates symptoms. If, based on these findings, the doctor suspects that your child may have congenital adrenal hyperplasia, the next step is to confirm the diagnosis with blood and urine tests.

Blood and urine tests 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' first few days of life, analyzing blood that's drawn from a heel prick of the newborn.

Prenatal testing
In recent years, doctors have had the tools for prenatal screening for and diagnosis of 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 a history or family history of the disease, 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 cell samples 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, it may appear that your child has ambiguous external genitalia, and thus the sex of your baby will be inconclusive. In that case, genetic blood tests can analyze chromosomes — in a test called karyotyping — to definitively determine the sex of your child.

In addition, a pelvic ultrasound can provide images of female reproductive structures (the cervix, uterus and fallopian tubes) to help in the process of determining your child's sex.

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Treatments and drugs

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 child will need monitoring for drug-related effects such as the loss of bone mass and impaired growth. Periodic routine blood tests throughout the course of your child's treatment will alert your child's doctor to make medication adjustments if needed. Regular visits to the doctor can serve to evaluate your child's progress, including monitoring changes in height, weight and blood pressure.

As adults, some men and women with congenital adrenal hyperplasia are able to stop taking their medications. However, others, particularly people with the classic form of the disease, may need to take 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 potent corticosteroid drug, such as dexamethasone, before giving birth. Corticosteroids can cross the placenta into the womb, 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 cautiously, awaiting findings about the long-term effects of the drug's use 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 remaining on their medications indefinitely. They grow up to lead lives in good health and with a normal life expectancy; however, they may be shorter than their parents. 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 and difficulty achieving orgasm.

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.

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Coping and support

Females 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.

However, this doesn't mean girls with classic congenital adrenal hyperplasia will be confused about their gender identify or have any associated mental health problems. With support from family and health care providers, girls with this condition are likely to have normal self-esteem and a satisfying social life.

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Prevention

Doctors 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 minimize or even eliminate symptoms after birth.
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