Description

Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic diseases that affect the adrenal glands. The adrenal glands are a pair of walnut-sized organs above the kidneys. They make important hormones, including:

  • The Cortisol. This controls the body's response to illness or stress.
  • Mineralocorticoids such as aldosterone. Control of sodium and potassium levels.
  • Androgens such as testosterone. These sex hormones are necessary for growth and development in both males and females.

In people with CAH , a change in the gene leads to a lack of the enzyme proteins needed to make these hormones.

The two main types of congenital adrenal hyperplasia are:

  • ClassicCAH. This type is more rare and more serious. It is usually found testing at birth or in early childhood.
  • NonclassicCAH. This type is more soft and more common. Can't be found until in childhood or early adulthood.

There is No cure for congenital adrenal hyperplasia. But with the right treatment, most people who have CAH can lead a full life.

Symptoms

The symptoms of CAH vary. The symptoms depend on which gene is affected. It also depends on how greatly the adrenal glands, the lack of one of the enzymes necessary to produce hormones. With the SHARIA , the hormones that the body needs to work properly are thrown out of balance. That can lead to too little cortisol, very little of aldosterone, too many androgens, or a mixture of these issues.

Classic CAH

The classic symptoms of CAH may include:

  • It is not enough cortisol. With CAH classic , the body doesn't make enough of the hormone cortisol. This can cause problems to maintain the blood pressure, blood sugar and energy levels healthy. It can also cause problems during physical stress, such as disease.
  • The adrenal crisis. People with CAH classic can be seriously affected by the lack of cortisol, aldosterone, or both. This is known as adrenal crisis. It can be deadly.
  • External genitalia that do not look typical.In lactating women, some parts of the genitals on the outside of the body can be different from the usual. For example, the clitoris in size and can resemble a penis. The lips may be partially closed and look like a scrotum. The tube through which urine leaves the body, and the vagina may be an opening in place of two separate openings. The uterus, fallopian tubes, and ovaries often develop in a typical manner. The male babies withCAHoften have genitals that are typical, but sometimes enlarge.
  • Too much androgen.An excess of the male hormone androgen can lead to a low height and early onset of puberty for children. Pubic hair and other signs of puberty can occur at a very early age. Severe acne can also occur. Extra androgen hormones in women may lead to the facial hair, more body hair than usual and a deep voice.
  • Growth disturbance. Children can grow quickly. And their bones may be more developed than is usual for its age. Final height may be less than the average.
  • Fertility problems. These may include irregular menstrual periods, or not having periods. Some women with CAH classic can have problems to become pregnant. Fertility problems can sometimes occur in men.

External genitalia that do not look typical. In lactating women, some parts of the genitals on the outside of the body can be different from the usual. For example, the clitoris in size and can resemble a penis. The lips may be partially closed and look like a scrotum. The tube through which urine leaves the body, and the vagina may be an opening in place of two separate openings. The uterus, fallopian tubes, and ovaries often develop in a typical manner.

Male infants with CAH often have genitals that are typical, but sometimes enlarge.

Too much androgen. An excess of the male hormone androgen can lead to a low height and early onset of puberty for children. Pubic hair and other signs of puberty can occur at a very early age. Severe acne can also occur.

Extra androgen hormones in women may lead to the facial hair, more body hair than usual and a deep voice.

Nonclassic CAH

Often there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have any symptoms. The condition is not to be found in the routine infant blood screening tests. If symptoms occur, they usually appear in late childhood or early adulthood.

Women with nonclassic CAH may have genitals that are typical in the birth. Later in life, may have:

  • Irregular menstrual periods, or none at all.
  • Trouble getting pregnant.
  • Characteristics such as facial hair, more body hair than usual and a deep voice.

Sometimes, nonclassic CAH can be confused with a hormonal condition that occurs during the reproductive years called polycystic ovary syndrome.

Nonclassic CAH symptoms in children of birth sex may also include:

  • The first signs of puberty, such as the growth of pubic hair earlier than usual.
  • Severe acne.
  • The rapid growth during childhood with the bones that are more developed than is usual.
  • Shorter-than-expected final height.

When to see a doctor

The more often, the classic CAH is located in the birth through the routine screening of the newborn. Or is found when a baby's external genitalia do not look typical. CAH can also be detected when the children show symptoms of severe illness due to low levels of cortisol, aldosterone, or both.

In children who have nonclassic CAH , the symptoms of precocious puberty can occur. If you have concerns about your child's growth or development, schedule a checkup of your child's health care professional.

In older people who have irregular menstrual periods, difficulty getting pregnant, or both, the screening of the HSC may be appropriate.

If you are planning a pregnancy or who are pregnant and who may be at risk of CAH , ask your healthcare provider about genetic counseling. A genetic counselor can tell you if your genes may affect you or your children you choose to have.

Causes

The most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make adequate amounts of hormones. Very rarely, a lack of other much more rare enzymes can also cause CAH .

CAH is a genetic condition. That means it is passed down from parents to children. It is present at birth. Children with the condition of having two parents who both carry the genetic change that causes the SHARIA . Or have two parents who have CAH themselves. This is known as the pattern of inheritance was autosomal recessive.

People can carry the CAH gene and do not have symptoms of the condition. This is called a bearer, silent. If the silence becomes the bearer of the pregnant woman, a person can pass the gene on to a child. If the tests show that you are a silent carrier of the CAH gene and has an opposite-sex partner, talk to your health professional. It is likely that your partner will have to be tested for the CAH gene before the pregnancy, so that you can better understand the risks.

Risk factors

Factors that increase the risk of CAH include:

  • Parents who both have CAH .
  • Parents who are carriers of the mutation that causes the SHARIA .
  • Of Ashkenazi Jewish, Latino, Mediterranean, Yugoslavia, or Yup'ik descent.

Complications

People who have classic CAH are at risk of a life-threatening condition called adrenal crisis. This emergency must be treated right away. Adrenal crisis may occur within the first few days after birth. Can also be turned on at any age by an infectious disease or physical stress, such as surgery.

With the adrenal crisis, very low levels of cortisol in the blood can cause:

  • The diarrhea.
  • Vomiting.
  • The dehydration.
  • Confusion.
  • Low levels of sugar in the blood.
  • Seizures.
  • The shock.
  • State of Coma.

Aldosterone can also be low. This leads to dehydration, low in sodium and high in potassium levels. The nonclassic form of CAH is not the cause of adrenal crisis.

The people who have either classic or nonclassic CAH may have irregular menstrual cycles and fertility problems.

Prevention

There is no known way to prevent the SHARIA . If you are thinking of starting a family and are at risk of having a child with CAH , talk to your health professional. You can be that you see a genetic counselor.

Diagnosis

Health professionals can be found congenital adrenal hyperplasia (CAH):

  • Before the baby is born.
  • Shortly after the birth.
  • During childhood or later in life.

Prenatal testing

The tests used to find CAH before birth in fetuses who are at risk for the disease include:

  • The Amniocentesis. This procedure involves the use of a needle to remove a sample of fluid from the matrix. This is called amniotic fluid. Then, a lab checks the cells in the fluid.
  • Chorionic villus sampling. This test involves removing cells from an organ that provides the fetus with oxygen and nutrients. This organ called the placenta. A laboratory is examining the sample of cells from the placenta.

Tests to confirm if a baby has a CAH are done after the baby is born.

Newborns and babies

In the united States and many other countries, newborns are routinely tested for 21-hydroxylase deficiency. The screening test is recommended during the first days of life. This test can find the classic form of CAH . Not identify the nonclassic form.

In female infants whose external genitalia that looks very different from what is usual, other tests can be carried out. Verification testing of the structures inside cells that contain the genes, called chromosomes, to identify the genetic sex. Also, an ultrasound of the pelvis can find the presence of the reproductive organs, such as uterus and ovaries.

Children and adults

Tests to find the CAH in children and adults include:

  • Physical exam. A physical exam usually includes a check of blood pressure and heart rate. The symptoms are also reviewed. If a healthcare provider suspects CAH , blood and urine tests are done.
  • Blood and urine tests. These tests can detect the hormones produced by the adrenal glands to levels outside typical ranges. The tests also check the levels of minerals called electrolytes, such as sodium. These minerals balance the amount of water in the body.
  • X-ray. This test may be done to know if a child's bones are more developed than is usual for the child's age.
  • The genetic testing. Genetic testing may be necessary to confirm whether SHARIA is the cause of the symptoms.

Treatment

For children, a health professional is likely to make a referral to a specialist in childhood hormonal issues. This specialist is called a pediatric endocrinologist. For adults, a referral is often made to an adult endocrinologist. The team of treatment that may also include other health professionals such as:

  • A doctor who discovers and treats diseases of the urinary tract, which is called a urologist.
  • A mental health professional called to a psychologist.
  • A doctor that detects and treat conditions of the female reproductive system, called a reproductive endocrinologist.
  • An expert in the genes is called a geneticist.

Treatment may include medicines, surgery, and mental health support.

Drugs

The goal of the treatment of CAH with drugs to reduce the amount of androgen in the body and replace the hormones that the body lacks. People with CAH classic can handle the problem by taking hormone replacement medication throughout their lives.

People with nonclassic CAH may not need treatment. Or you may only need small doses of medications called corticosteroids.

Medications for CAH are taken every day. During illness or times of severe stress, other medications or higher doses may be necessary.

Medications may include:

  • Corticosteroids to replace cortisol.
  • Mineralocorticoids to replace the aldosterone-to help keep the salt in the body and to remove excess potassium.
  • Salt supplements to help keep the salt in the body.

Regular check-ups are necessary to ensure that the medications that work well. These quotes usually include:

  • A physical exam. This test includes the testing of a child's growth and development. That involves closely monitoring the changes in height, weight, blood pressure, and bone growth. People with CAH require health checks on a regular basis throughout their lives.
  • The check for side effects. Medicine side effects may include loss of bone mass, and the growth is slower than usual. The risk of side effects increases if the steroid type of replacement medicine doses are high and is used long-term.
  • Blood tests to check hormone levels.It is important to have regular blood tests to ensure that your hormone levels are in balance. Children who have not reached puberty need enough cortisone to suppress the androgens to grow to a typical height. For women withCAH, androgens are suppressed to minimize the symptoms such as a deeper voice, or extra hair in the body. But an excess of cortisone can cause a condition called Cushing's syndrome. Cushing's syndrome can lead to symptoms such as the fat lump between the shoulders, and a rounded face. It can also cause high blood pressure, bone loss and type 2 diabetes.

Blood tests to check hormone levels. It is important to have regular blood tests to ensure that your hormone levels are in balance. Children who have not reached puberty need enough cortisone to suppress the androgens to grow to a typical height. For women with CAH , androgen are suppressed to minimize the symptoms such as a deeper voice, or extra hair in the body.

But an excess of cortisone can cause a condition called Cushing's syndrome. Cushing's syndrome can lead to symptoms such as the fat lump between the shoulders, and a rounded face. It can also cause high blood pressure, bone loss and type 2 diabetes.

With CAH classic , it is a good idea to wear a medical identification bracelet or necklace that says you have congenital adrenal hyperplasia. It can help a health care team to provide the appropriate treatment in case of an emergency.

Reconstructive surgery

Some girls with CAH classic have external genitalia that look very different from what is usual. The medical team can suggest the reconstructive surgery as part of treatment. The surgery can help to the genital function better and look more typical.

The surgery may involve the clitoris is smaller, and the reconstruction of the vaginal opening. The surgery is usually performed between 3 and 6 months of age. Women who have reconstructive genital surgery, as babies may need more than cosmetic surgery later in life.

Some parents choose to wait to decide on the surgery of the genitals of his son. It could delay the surgery until the child is old enough to understand the risks and make decisions about the surgery.

A decision on the timing of surgery should be made after a thorough discussion between the family and the healthcare team.

Mental health support

Mental health support is key for children and adults with CAH . You can help with the social and emotional parts of the disease. Locate a mental health professional who has experience in helping people with CAH .

Research

The treatment of CAH during pregnancy with the laboratory-made corticosteroids to cross the placenta to the fetus are controversial and considered experimental. More research is needed to determine the long-term safety and effect of this treatment in the brain of a baby.

Coping and support

Early and constant support from family and health professionals is important. This support can help people with CAH have a healthy self-esteem and to the satisfaction of the social life. You might want to take these steps:

  • Include mental health counseling in a treatment plan as needed.
  • Seek help from a mental health professional if you have problems coping.

Preparing for your appointment

You can start by seeing your family health care provider or your child's pediatrician. You may be referred to a specialist trained in the search for and treatment of diseases related to the adrenal glands. This specialist is called an endocrinologist.

Here's some information to help you prepare for your appointment. You may want to take a family member or a friend to support and help to remember the information.

What you can do

To prepare for your appointment:

  • Find out if you or your child need to do anything prior to the appointment. That could include the change of what you or your child eats or drinks to prepare for examinations of blood and urine.
  • Make a list of the symptoms you or your child has had, and for how long.
  • Make a list of medical information. Include recent illnesses, medical conditions, and the names and doses of the drugs, vitamins, herbs and other supplements.
  • Prepare the questions you want to ask your health care professional.

Some basic questions to ask may include:

  • What is probably the cause of the symptoms?
  • There are other possible causes of these symptoms?
  • What kind of proof do you need?
  • What treatment approach do you recommend?
  • What are the expected results of the treatment?
  • What are the possible side effects of treatment?
  • How will you monitor the health over time?
  • What is the risk of long-term medical problems?
  • Do you recommend mental health counseling?
  • Do you recommend that our family to meet with a genetic counselor?

Feel free to ask any other questions during your appointment.

What to expect from your doctor

Your healthcare provider will likely ask questions such as:

  • What are your symptoms?
  • When did you begin to notice these symptoms?
  • Does anyone in your family has a congenital adrenal hyperplasia? If so, do you know how is it treated?

Be prepared to answer questions, so that you have time to go over points you want to focus on.

Symptoms and treatment of Congenital adrenal hyperplasia