Hello. In this HealthSketch, we want to talk to you about CAH, which stands for Congenital Adrenal Hyperplasia. Congenital means it is present from birth, adrenal refers to the part of the body affected, and hyperplasia describes the change that happens. CAH is a condition about hormones. You may have heard of the word ‘hormone’ before, as there are lots of different types in the body. In fact, a ‘hormone’ is just a chemical messenger, sending a message from one part of the body to another, via the blood. The adrenal glands lie on top of each kidney, and their main job is to make hormones.
The outer part of the adrenal gland produces two different types of hormones: corticosteroid hormones and sex hormones: The corticosteroids have a role in salt levels, blood sugar levels, blood pressure, and the immune system. The sex hormones are responsible for the changes that take place in boys and girls during puberty. So both these types of hormones are important, and having the right levels in the body is also important, particularly for corticosteroids. The brain tries to control how much corticosteroids the adrenal gland makes, by detecting the levels in the blood.
If levels are low, a signal is sent to the adrenal gland to make more. In people with CAH, a faulty gene means that the corticosteroid hormones can’t be produced. The brain detects the low level of corticosteroids in the blood, and sends signals to the adrenals to work harder. As a result, the adrenals grow in size, which is what hyperplasia means.
But because of that faulty gene, the gland still can’t make the corticosteroids. With the adrenals working harder, but still unable to make the corticosteroids, more of the sex hormones are made instead. So the symptoms of CAH are the result of having too little of the corticosteroids, and too much of the sex hormones. But there are different types of CAH depending on the gene affected, and the severity of CAH varies a lot. In severe cases, newly born babies may be very unwell with low blood salt and sugar levels, which can be life-threatening if not treated. Female babies may have a change in the genitalia due to the increased sex hormones. In milder cases, symptoms may not appear until later in to childhood or early adulthood. Because of the increased sex hormones, boys and girls may go through puberty earlier than usual, and girls may have symptoms such as irregular periods and facial hair.
In the mildest forms of CAH, there may be no symptoms at all. CAH can be diagnosed in many ways, through measuring hormone levels in the blood or urine, or by genetic testing. For those with a known family history of CAH, genetic testing is available to find out if you are a carrier of a faulty CAH gene.
This may be important for parents thinking about having children, and genetic counselling can be helpful. Babies can even be tested before birth while in the womb. Treatment for CAH involves replacing the missing corticosteroids with steroid medication which is taken regularly by mouth.
The treatment needs to be taken lifelong, under the guidance of a hormone specialist, called an endocrinologist, for routine follow up and dose adjustment. The dose may particularly need adjustment during periods of illness, when the body’s need for corticosteroids increases. In the most severe cases, people with CAH may become severely unwell through dehydration and low blood pressure, requiring hospital admission. Because of this, it is important to wear some form of Medical I.D., to receive prompt treatment if you are found collapsed or unconscious. Although there is no cure for CAH, it is very treatable, and with continued treatment, children and adults with the condition can expect to live a long and normal life. Though people with CAH may face different issues, there are many who can help, such as paediatric and adult endocrinologists, clinical nurse specialists, gynaecologists, psychologists, counsellors and patient support groups. In this HealthSketch we’ve talked about Congenital Adrenal Hyperplasia, an inherited condition that affects the way hormones are made in the adrenal gland. We’ve talked about how the condition occurs, the symptoms that result, and how it can be treated.
We hope this Healthsketch has been helpful to you and those around you. HealthSketch. Health for all to see.
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