Congenital adrenal hyperplasia

CAH is a genetic disorder that causes inflammation of the adrenal glands. The condition is associated with a decrease in blood levels of cortisol (stress hormone) and an increase in the level of androgens (male sex hormones) in both sexes. Some people have mild disease that has no symptoms. Other (mainly male babies) develop a severe form that can be deadly. Medical treatment to correct hormone levels is available. Surgery to improve the appearance of unusual genitalia (girls) and to remove the adrenal glands is sometimes considered.

On this page

  • What are the adrenal glands and what do they do?
  • What is congenital adrenal hyperplasia?
  • Who is affected and how common is it?
  • What causes CAH?
  • What are the symptoms of untreated congenital adrenal hyperplasia?
  • How is CAH?
  • What are the treatments for classic CAH?
  • What other people with classic CAH precautions to take?
  • What are the treatments for non-classical CAH?
  • What treatment is available if my unborn baby is suspected to be affected?
  • What treatments are available for a newborn baby that has classical CAH?
  • What surgical treatment is available?
  • It CAH go?
  • More help and information
  • References

It has two small adrenal glands that are located just above each kidney. Each adrenal gland has an outer part (adrenal cortex) and an inner portion (adrenal medulla). The cells of the adrenal glands produce several hormones. A chemical substance is a hormone which is produced in a body part, but passes into the blood and has an effect on other parts of the body.

pituitary and adrenal glands

Cells of the adrenal cortex (the outer part of the adrenal glands) produce the hormones cortisol and aldosterone. The amount of cortisol produced is controlled by another hormone called adrenocorticotropic hormone (ACTH). ACTH is produced in the pituitary gland (a small gland that sits just below the brain). ACTH into the bloodstream, it is carried to the adrenal glands and stimulates the adrenal glands to produce cortisol.

The adrenal cortex cells also produce small amounts of sex hormones such as testosterone and estrogen, although most of them are produced in the testes and ovaries.

Congenital adrenal hyperplasia (CAH) is a condition that affects the level of cortisol, a hormone produced by the adrenal gland. It is a genetic condition and can be inherited from your parents. There are different ways:

  • Classic: This is the grave. There are two types – the loss of salt and salt loss.
  • No classic: this is softer (also known as delayed type).

The severe classic form affects one in 15,000 births worldwide. Nearly 7 out of 10 people affected have type of loss of salt and the rest have type loses no salt.

The milder nonclassical form affects one in every 1,000 Caucasians. It is more common in certain ethnic groups, such as Eastern European Jews, Hispanics and Yugoslavs

  • Under normal circumstances, ACTH stimulates the adrenal glands to produce chemical building blocks (precursors) that make cortisol.
  • There is a feedback system that controls the production of ACTH. The ACTH release rate depends on the amount of cortisol in the blood stream. As more cortisol is produced is reduced ACTH release, which slows the adrenal gland stimulation of cortisol production and to a balance between these two hormones is achieved.
  • In CAH's a lock on the assembly line that produces cortisol from precursors. Thus, the blood level of cortisol is low, and there is never enough cortisol produced to delay the release of ACTH. This means that the adrenal glands are stimulated constantly causing excessive growth of the adrenal gland (hence the term hyperplasia).
  • The large amount of precursors of all this stimulation accumulate in the adrenals and seep into the bloodstream. One is testosterone, a male hormone that causes the virilizing (man-like) features seen in the disease.
  • Blocking can also cause aldosterone production is reduced. A decrease in the level of this hormone can have effect on the salt level in the bloodstream.

Typical symptoms depend on the type of CAH and whether you are male or female.

Classic form

What are the symptoms of a child? Girl babies usually diagnosed shortly after birth because of unusual looking genitals. The clitoris may be larger than normal and the urethra (urine canal) and vagina may merge to form a larger hole. The uterus (womb) and other female organs are normal. Because the condition is recognized so early, girls do not usually get very sick from complications (see below).

What are the typical symptoms of a baby?

  • These babies are normal, except for your skin can be a little darker than usual. The penis can be enlarged. Other symptoms depend on whether the child has the salt-wasting form or not salt-wasting form.
  • Baby boys with the salt-wasting form: if the condition is severe, the baby may experience a crisis of loss of salt and become very ill. This occurs when they are between 7-14 days old. They can get vomiting, weight loss, extreme fatigue, dehydration (fluid loss) and shock.
  • Children with the salt-wasting form not usually diagnosed early because they develop virilization. This means that there are signs of precocious puberty and an enlarged penis or increased body hair. This is recognized between the ages of 2-4 years.

No classic form

This tends to be diagnosed in late childhood or early adulthood.

What symptoms get children or young men? In severe cases, children may reach sexual maturity at a younger age, with the growth of pubic and underarm hair, enlarged penis and increased stature. A young man may have a mild form that does not cause symptoms. Can not be diagnosed unless tested in later life by some other condition.

What symptoms do females get it? Girls can develop sexually at an early age, with pubic hair and axillary hair growth and increased stature. Virilization (development of male characteristics) in girls, due to higher levels of male hormones, can take the form of excess body hair (hirsutism). You can also get infertility or oligomenorrhea (few periods). Other features may include amenorrhea (absence of menstruation), polycystic ovary syndrome (a condition in which many cysts in ovaries) or acne. If you have a mild form may not get any symptoms at all.

In any case, you can find it affects their sexuality. You can become less feminine in appearance and behavior.

  • Blood tests are the first tests to perform and can demonstrate that the levels of chemicals in the blood are outside the normal range. For example, you may have a low sodium or high potassium. You can also get a blood glucose level low or high levels of the hormone 17-hydroxyprogesterone.
  • If there is still doubt about the diagnosis, you may need to get an ACTH stimulation test. ACTH is a hormone that stimulates the adrenal gland. You will have an injection of the hormone and a blood test an hour later to measure how your adrenals have responded.
  • The pelvic ultrasound is performed on girls unusual appearing genitalia. This shows if the uterus is present or absent and if the kidneys look unusual.
  • Radiographs of the bones of a child is sometimes done to check the pace of development of the skeleton (bone age). In this type of CAH can be faster than normal.
  • If the sex of the baby is in doubt, a karyotype test (blood test to examine the sex genes in a single cell) can be performed.
  • Other tests to examine genetic defects may also be required.
  • An unborn baby can be suspected of classical CAH if both parents have been identified as carriers. In this case, tests are done to check the baby's sex and if you are affected. A test called amniocentesis involves taking a sample of amniotic fluid (the fluid that surrounds the baby in the womb). Another test, called villi sampling, involves taking a sample of tissue from the placenta.

Treatment may include:

  • Glucocorticoids: these are steroid medicines that are similar to cortisol. Cortisol and glucocorticoids have different effects on the body, including helping to regulate the level of glucose (blood sugar). It takes a certain level of cortisol or glucocorticoids to stay well. One of this group, hydrocortisone used in children, since they do not have much effect on growth rate. Stronger steroids such as prednisolone and dexamethasone for use in adults. Hydrocortisone is still used in short bursts in adults during illness or after an injury or surgery.
  • Mineralocorticoids: it is a steroid similar to type aldosterone. One of these may be necessary to control the salt concentration in the blood and the level of a hormone called renal renin. The most commonly used is fludrocortisone.
  • Infants with salt-wasting CAH may need sodium chloride (salt) in the first six months of life. Salt replacement is particularly important when it's hot.
  • Special care should be taken during situations that put additional stress on the adrenal glands. Examples include surgery, infection and injury. You may (in consultation with their GP or hospital specialist) need a higher dose of steroids that you normally take. It may also be necessary administered excess fluid through a drip into a vein.
  • Your level of blood glucose can be lowered with exercise, fasting and illness or you may need to increase the intake of glucose and carbohydrates to compensate.
  • You should wear or carry medical alert identification for any health professional treating emergency is known to have CAH.
  • Treatment is not necessary unless you have symptoms, in which case a glucocorticoid steroid used. Boys or girls with androgen excess functions (see above) may need hydrocortisone. An adult woman may need additional treatment to control the effect of androgens, such as flutamide steroid called.
  • If you are in a glucocorticoid, you may need extra steroids in situations in which the adrenal glands are stressed, such as illness, surgery or injury.

If you and your partner are carriers of the gene for CAH, the mother may offer treatment with dexamethasone tablets. This helps to reduce the effect on the condition of the unborn baby's genitals if it's a girl. Treatment is controversial, because there is only a 1 in 8 chance that the baby will be affected: the specialist will explain the risks and benefits of treatment with you. If tests show that the baby is a boy or a girl who is not affected, treatment should be stopped immediately.

Two thirds of infants affected with classic CAH are salt losers. They may require treatment via a drip to replace fluids, salt and glucose.

  • Surgery to improve appearance is sometimes offered when a girl has unusual genitalia.This is usually between 2-6 months, as it is technically easier than at later ages.
  • Surgery to remove both adrenal glands is sometimes performed. The operation reduces the effects of androgens on the condition and prevent weight gain. However, if you have this procedure would have to be large amounts of steroid therapy for life. There have been reports of adrenal crisis (a potentially fatal condition that occurs when there is not enough cortisol in the bloodstream) – The deaths have occurred.
  • CAH is a lifelong disease. However, if you have the proper treatment, either medical or surgical treatment, the prognosis is good, mostly.
  • If you are a woman with a genital abnormality may develop male interests and have problems with sexual adjustment. You can not grow very tall and may have infertility problems. Proper treatment and counseling will be able to help with these difficulties.
  • It is important that you have a thorough understanding of your condition. The most important point in terms of their physical health is to consult with your doctor if you need steroids in times of illness, injury or surgery.

CAH – Congenital Adrenal Hyperplasia Support Group

2 Windrush Close, Flitwick, Bedfordshire, MK45 1PX
Tel: 01525 717536 Web: www.livingwithcah.com

National Center for adolescent and adult women with congenital abnormalities of the genital tract

Queen Charlotte and Chelsea Hospital, Du Cane Road, London, W12 OHS
Tel: 0203 313 5363 Web: www.imperial.nhs.uk / femgenab