What is Congenital Adrenal Hyperplasia (CAH)?

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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