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Thread: Congenital Adrenal Hyperplasia Pictures - Pediatric cases

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    Question Congenital Adrenal Hyperplasia Pictures - Pediatric cases

    Definition
    Congenital adrenal hyperplasia (kun-JEN-ih-tul uh-DREE-nul hi-pur-PLAY-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 kinds 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.

    Risk factors
    If a child’s parents both have congenital adrenal hyperplasia or if both are carriers of the genetic defect for the disease, the 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 Yupik Inuit.

    Complications
    Babies, children or adults with classic congenital adrenal hyperplasia could experience a life-threatening "adrenal crisis," meaning their adrenal glands aren't producing enough cortisol. 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.

    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, 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 menstrual periods, unwanted male-pattern hair growth in women (hirsutism) or infertility.

    Here's some information to help you prepare for your appointment.

    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.
    Congenital Adrenal Hyperplasia Pictures Pediatric attachment.php?s=eb8616b9ad0ccf3d2a9a8c85481caa3d&attachmentid=1777&d=1441219468

    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. This treatment is still considered experimental by many doctors.

    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 easier than it is 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.

    References:
    Congenital adrenal hyperplasia Treatments and drugs - Mayo Clinic











    Last edited by Medical Photos; 09-02-2015 at 06:44 PM.

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