Growth HormOne Research SocietyLecture by Dr. (Prof.) I. P. S. Kochar
Paediatric & Adolescent Endocrinologist & Diabetologist

CAH. Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia is a disease your baby was born with (i.e. congenital) where the adrenal glands are enlarged (i.e. hyperplasia) and do not produce the key stress-fighting hormone cortisol,. The adrenal glands are small organs that lay on top of the kidneys. These glands make several kinds of hormones. Hormones are chemical messengers. They are produced in one part of the body and act somewhere else in the body. Hormones are important for normal function and growth. Hormones affected by CAH include:

Cortisol is the key stress-fighting hormone. It helps protect the body from infection, injury, and disease and provides energy.

ldosterone is the salt-retaining hormone. It helps the kidneys take salt from the urine and keep salt in the blood. Without this hormone, a person can easily become dehydrated and go into shock.

Androgens are male sex hormones. They are produced in both girls and boys and are important for growth and development of the sexual organs.

How severe the enzyme shortage is will determine the type of CAH. There are 2 types of classical CAH and a non-classical form. Salt-wasting CAH: The adrenal glands make almost no cortisol or aldosterone (the body’s salt-retaining hormone) and too much androgen (male hormone). Simple-virilizing CAH: The adrenal glands make enough aldosterone but not enough cortisol and too much androgen. Non-Classical or NCAH is a milder form that often presents in childhood or later in which the body makes some cortisol, normal amounts of aldosterone, and too much androgen.

Treatment of CAH

CAH is treated by giving the baby the missing hormones its body can’t make. These hormones are given as medicine in the form of pills. They include hydrocortisone and cortisone. There are several brands. For children with salt-losing CAH, fludrocortisone (Florinef) must also be given to retain the correct salt balance. Also, salt is often given to these babies in the form of sodium pills, table salt or a saline solution.

These pills need to be taken daily for life. The amount needed differs from child to child. Body size and the rate the body absorbs the medicine will affect the dose needed. As the child grows, the dose will be adjusted as needed. The dose your baby needs will be worked out by your baby’s doctors.It is important that newborns with CAH receive care at an endocrine center or by a pediatric endocrinologist. An endocrine centre is a specialized center with a team of experts trained in the treatment of hormone disorders. They can provide your child with the special care needed to treat CAH. People with CAH can have normal healthy lives. For most, there are very few problems if the disease is managed well. People with CAH will need lifelong follow up to maintain the right amount of medicine to ensure normal sexual function and fertility.

Be sure to give your baby hormone medicine every day. And what is stress dosing.

Give the tablets at the same time every day and make it a part of your routine so you do not forget. With newborns, the tablets need to be crushed and given very carefully. When your infant is older, it will be easier to give. When we are sick or injured our body normally makes larger amount of cortisol. This extra amount helps our body cope with the extra stress. The child with CAH can’t make extra cortisol so he or she needs special care to avoid going into an adrenal crisis. This is called “stress dosing.”Make a plan with your child’s doctor about what to do when she or he is sick, so you understand when and how to give a stress dose. Also, make sure you have been given a prescription for injectable hydrocortisone and you have been instructed on how to give a shot to your child Usually a larger dose of the daily medicine is needed until the body recovers from an illness with fever, diarrhea or vomiting. Vomiting may make it hard for the stomach to absorb the medicines needed. Diarrhea may cause a child to dehydrate more quickly. A hydrocortisone shot may be needed if the child cannot keep down the medicine. If a child needs surgery for any reason, he or she will need to be monitored by an endocrinologist and given extra hydrocortisone through an IV or a shot.

What is adrenal crisis .

An adrenal crisis is a sudden, life-threatening state caused by not enough cortisol when the body is stressed due to illness or injury. The following symptoms may mean your child is having an adrenal crisis:

Unusual tiredness and weakness. Dizziness when standing up

Nausea, vomiting, diarrhea, loss of appetite, stomach ache If your child has these symptoms, contact your doctor, give an injection and go to a hospital right away.

Are there issues to concerned about with CAH .

Both boys and girls with CAH make too much androgen. They take hydrocortisone to suppress their androgen levels. Too much androgen causes early puberty, development of pubic hair, acne, and rapid growth rate.Children have growth plates at the end of their long bones. These plates allow for growth. As the child grows these plates close and growth stops.Too much androgen causes the plates to close up prematurely. This can result in a child being tall when young, but permanently quite short as an adult. Treatment with hydrocortisone will prevent these problems. But, too much cortisol can cause side effects like slow growth rate, puffy cheeks and weight gain. The paediatric endocrinologist will work to balance the child’s level for optimum growth and development with a minimum of side effects.

Are there special issues to be concerned with boys with CAH

For baby girls with CAH, it is sometimes hard to be sure about the sex at the time of birth. Tests may be needed to find out what internal organs are present. With CAH, their internal sex organs (uterus, ovaries) will be completely normal. It is only the external genitals that are affected by the disorder while being formed in the uterus causing them to look different from typical female genitals. In baby girls with CAH, there is a large clitoris and some closing of the labia (lips around the opening of the vagina). Keep in mind that this can be treated.In baby girls with CAH, surgery can be done to correct the masculine looking genitals including enlarging the vaginal opening and reducing the size of the clitoris. However this reconstructive surgery and its timing can be controversial. Given the rarity of this disease and the sensitivity of the procedure, this surgery requires a large degree of expertise on the part of the surgeon performing this surgery.

Virilization in a baby girl with CAH

Cah Mangament

Will my children grow like other children

With treatment, children with CAH can have normal physical growth. There is no mental deficiency. The life expectancy is normal. Women on treatment can expect normal pregnancies and delivery like m any other females. Men on treatment can have normal fertility. WHAT are the chances of having another baby with CAH

Parents of children with CAH rarely have the disease. They usually are carriers which means they have one working gene and one that is not working or only partially working. The working gene makes enough of the enzyme needed to make cortisol. People who have one working and one nonworking or only partially working gene are called carriers. Parents who are carriers each pass on either their working or nonworking gene each time they get pregnant. With each pregnancy, the chance of a baby having CAH is the same no matter how many children the carrier couple have.

Prenatal diagnosis of CAH Please talk to a genetic counsellor or endocrinologist about future pregnancies and whether CAH can be detected during pregnancy. Research studies are testing medicines you can take in the early part of your pregnancy to reduce genital anomalies in affected female babies.

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