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CAH

Congenital Adrenal Hyperplasia

CAH is an inherited condition in which children are born with ("congenital") enlargement ("hyperplasia") of the adrenal glands, two small structures above the kidneys in the abdomen. The adrenals are endocrine glands which secrete hormones (chemicals which carry messages) into the blood. The inner part secretes adrenalin, the hormone involved in the response to fright; this is normal in CAH. The outer part secretes three different steroid (a particular chemical structure) hormones, cortisol, which is important in controlling the blood sugar level and also in helping the body combat stress, such as that due to infection or serious injury, aldosterone, which regulates the loss of salt in the urine, and androgen, male sex hormone (secreted in both sexes).

In CAH there is an inherited defect in the production of hydrocortisone and usually also of aldosterone, due to malfunction of the enzyme (a chemical which permits specific chemical reactions to take place) 21- hydroxylase. The low level of hydrocortisone in the blood stimulates the pituitary gland (which lies at the base of the brain) to secrete the hormone ACTH (AdrenoCorticoTrophic Hormone) in an attempt to restore the level of hydrocortisone to normal. Because of the block in production of hydrocortisone this does not occur but the stimulation causes enlargement of the glands and an excessive production of androgen, since this is made normally.

This starts before birth and the high level of androgen causes girls to become 'masculinised' with enlargement of the clitoris and partial closure of the vaginal opening. Since boys are already masculinised by their testes they show no abnormality at birth. In many but not all children with CAH the lack of aldosterone results in excessive loss of salt in the urine after birth. If untreated, this may become critical in the first two or three weeks of life and result in a potentially fatal 'salt-losing crisis'. The increased ACTH secretion may also cause some pigmentation of the skin.

CAH is inherited as a "recessive" disorder. CAH children are born to parents who, although apparently normal themselves, are both "carriers" for the condition. All genes are paired and in carriers one gene for the structure of the 21-hydroxylase enzyme is abnormal and one is normal; adequate amounts of 21- hydroxylase are produced. Children with CAH have two abnormal genes, one inherited from each parent, and so no normal enzyme is produced. On average one in four children of carrier parents can be expected to inherit both abnormal genes and have the disease, two will be carriers and one will inherit two normal genes. Thus, in this type of inheritance, for parents who have produced a child with CAH, each subsequent child has a 1 in 4 risk of inheriting the condition. When a person with CAH marries, it is unlikely that the spouse will also be a carrier since the carrier rate in the general population is only 1 in 50. All the children will inherit one abnormal gene from the affected parent (who has two) but this is balanced by the normal gene from the other parent so all the children will be carriers but none will have the disease.

In CAH both the degree of masculinisation and the severity of the salt loss are variable but in general families 'breed true' and if the first affected child is not a salt-loser, it is unlikely that subsequent affected children will be.

In a family with one affected child, by genetic testing on placental cells it is possible to determine whether an unborn baby is affected. Since the condition can be treated successfully and is compatible with a fully normal life, termination is not appropriate but it is now possible to give a steroid which crosses the placenta and prevents masculinisation of a female fetus. If you wish to consider this option it is essential to have preliminary tests done before conception and then to start treatment as soon as pregnancy can be confirmed. Generally it is advised that pre natal therapy starts on or before the sixth week of pregnancy to achieve the best results.

Children with CAH need treatment with a corticosteroid. The usual corticosteroid used for treatment in children is Hydrocortisone but Prednisolone and Dexamethasone have been known to be used. The Prednisone dosed twice daily and the Dexamethasone dosed once daily. All the above steroids are of differing potencies. Any can be used to treat CAH providing that the Endocrinologist treating is experienced with control using the choice of corticosteroid. The aim is to reduce ACTH secretion and to prevent the excessive production of androgen and also to permit normal growth and development. In all girls and most boys, treatment must be continued for life. Children with salt loss also need fludrocortisone, a steroid with a salt-retaining action, to replace the missing aldosterone.

If the correct doses of these steroids are used, there are no side-effects whatsoever as the treatment is merely replacing the normal secretion of the adrenal glands. If too much hydrocortisone is given it causes weight gain and slowing of growth; too much fludrocortisone may cause high blood pressure. The correct dose of these drugs varies from child to child and has to be judged by regular measurement of height and chemical measurement of steroid concentrations in blood, urine or saliva.

Girls with masculinised genitalia would generally of had genital surgery in the past around the age of one year and sometimes even younger. However, it is now thought that this may be best left until girls have reached an age whereby they are able to make decisions about this for themselves. Since there is often no immediate health risk, this may be the most sensible option. There is now thought to be a link to sexuality and exposure to high androgens for girls with CAH in utero. It is not known however, how this link occurs exactly. You can learn more in depth information and support HERE.

It is necessary to mimic the response of the body to stress by increasing the dose of hydrocortisone to cover serious illness or injury (including surgery). Parents need to double or treble the usual dose of hydrocortisone if the child is seriously ill or has an accident. If the dose of hydrocortisone is repeatedly vomited it MUST be given by injection as vomiting may lead to an Adrenal Crisis if this is not dealt with immediately. All families with an affected child must have an injection of hydrocortisone available and know how to give it.

The child's progress requires regular review and dose adjustment. This is advised to be at three monthly intervals due to the often diverse changes in hormone levels due to growth which continues to adulthood. Once in adulthood this can range anywhere between three monthly and six monthly. This should be at the preference of the parent or individual and based on any other factors such as ongoing illness, pregnancy or fertility problems amongst a few.

In adulthood hydrocortisone treatment can be changed to prednisolone or dexamethasone or longer acting steroids, but this again should be left to the patient and based upon their convenience. Dexamethasone and prednisolone can be used during childhood providing that the Doctor is understanding of such treatment and familiar with either alternative. These steroids are longer lasting and much more potent than hydrocortisone.

Dexamethsone is thought to be 75-80 times more potent and prednisolone 4-5 times more potent. This would need to be factored in when treating a child with CAH with either of those steroids, otherwise either of those corticosteroids would be growth toxic. Normal development in all respects, normal fertility and a normal life-span without restrictions is generally the outcome for CAH children as long as the condition is closely and expertly monitored.

Side effects of steroids are relevant with CAH in over treatment just the same as anyone taking steroids for non-replacement reasons such as to deal with inflammatory conditions. At times of dosage changes it is therefore an added recommendation that clinical assessments and tests be done once per month until both parent and Doctor are happy that the child is doing well on any dose changes made. This is imperative to good steady growth in CAH children.