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What is Congenital Adrenal Hyperplasia (CAH)?
CAH is a disorder of the adrenal gland which affects the
production of essential steroid hormones such as cortisol
(required to maintain blood glucose, and allow the body to
respond to stress) and aldosterone (required to maintain
salt levels in the body, and maintain blood pressure).
Scottish Disorder of Sex Development
As the condition is present from birth it is
Managed Clinical Network
The condition affects the adrenal glands. These 2
Information Leaflet for Parents of Girls
glands sit on top of the kidneys (one on top of each
The glands enlarge in the effort to make
more steroid hormone, and this enlargement is called
CONGENITAL ADRENAL HYPERPLASIA
How common is CAH?
Around 1 in 10,000 children in Scotland are born with CAH.
What causes CAH?
The underlying problem is a lack of activity of an enzyme
(usually 21-hydroxylase) in the pathway through which
steroid hormones are made.
As the adrenal gland is attempting to make the steroid
hormone cortisol, there is a build up of other hormones
which the gland CAN make (i.e. do not require the missing
enzyme). These other hormones are called androgens,
which can affect the genital appearance in girls.
The amount of cortisol produced by the adrenal gland is
controlled by another organ, the pituitary gland, which lies
in the base of the skull. Because the adrenal gland has
difficulty producing cortisol, the pituitary gland responds
by making more adrenocorticotrophic hormone (ACTH)
which stimulates the adrenal gland to try and produce
more cortisol. Constant stimulation of the adrenal gland in
Because effective treatment is vital, newly diagnosed
this manner causes it to enlarge (Hyperplasia).
infants may be in hospital for a couple of weeks following
diagnosis, to ensure that treatment is effective.
Untreated CAH can result in severe salt loss, usually in the
second week of life (but can happen from around 4 days of
Surgical treatment for genital appearance
age). In the past, before treatment was available, this salt
Most girls with CAH require surgery, but this is not urgent.
In the past most surgery was started in infancy. However,
further operations were required in adolescence, and it is
How can CAH be treated?
now recognised that there may be advantages to leaving
CAH is a treatable condition. Treatment can be divided into
most, if not all surgery until the child is older. Timing of
medical treatment with steroids and salt replacement
surgery also depends on the anatomy at the time of birth,
which will be required in most children and surgical
and in particular any connections with the urethral opening
treatment which may be necessary in many girls.
All girls with CAH should be assessed by a paediatric
Deficiency in steroid hormones can be treated using
surgeon with experience in genital surgery. The anatomical
tablets and this will be managed by a paediatric
issues are complex and require a full assessment and the
endocrinologist. For infants the tablets are crushed, or
family may benefit from a discussion with the
dissolved. Children are treated with hydrocortisone
(=cortisol) three times daily, and fludrocortisone (which
works like aldosterone) once daily. Because the risks of
The main aim of surgery is to provide the child with the
salt loss are greatest in infancy, salt supplements are also
best function in adulthood, with the minimum of
given for the first year of life as a liquid. It is very likely
that your child will require these hormones throughout
What happens as my child gets older?
The dose of hydrocortisone and fludrocortisone will change
It is essential that the treatment is given daily. In addition,
as the child gets older. For this reason, children, and
because the body needs cortisol to respond to stress, your
especially the younger ones have to be seen in specialist
paediatric endocrinologist will give you instructions on how
endocrine clinics several times a year. All girls with CAH
to increase the dose of hydrocortisone if your child is
occasionally attend the SDSD clinics which are held in
unwell. If the child is unable the take the hydrocortisone
Aberdeen, Edinburgh and Glasgow so that they have
because of illness an injection of hydrocortisone may be
access to all the specialists at the same time.
required, and parents are instructed on how to do this.
It is very important to provide enough treatment to stop the adrenal gland producing extra androgens, as these can cause the body to mature too quickly resulting in early
puberty and short stature as an adult. For these reasons
The transition from child to adult services
steroid hormone levels need to be monitored, and blood
At some point during adolescence, care will be transferred
tests are taken at most clinic visits. In addition, in some
to adult services. Full and open communication with the
children finger-prick blood testing is also done at home
young person and their family will determine exactly when
once or twice a year. However, taking too much
this happens and how long this process takes. Often this
hydrocortisone can lead to weight gain or slow growth.
decision is reached at the joint SDSD clinic which occurs in
Children have their height and weight measured regularly
Aberdeen, Edinburgh and Glasgow. A separate Transition
in clinic. Maturity is also assessed by x-ray of the wrist
Clinic or joint sessions with adult and paediatric services
will allow this to happen in the best interest of the young
The dose of hydrocortisone required to control the CAH
may make it difficult for some children to keep their weight
What are the long-term results of CAH?
down, and this can be a particular problem for girls at
It is important to note that CAH is a treatable condition
adolescence. In some children other medicines may be
where affected individuals can lead normal lives and have
used to control puberty or improve growth or weight gain
a normal life expectancy. Sexual function and fertility can
and this will be discussed fully with you.
be normal in adults with CAH but it is possible that
inadequate treatment may affect the young person’s
Psychological impact on children with CAH and
reproductive function. This will depend from one individual
to another and will be discussed in more detail in the clinic.
The diagnosis of CAH often comes as a deep shock to
parents, and since the condition affects the appearance of
the genitals in girls, it is not surprising that families feel
All the children’s hospitals in Scotland collect details on
deeply distressed and confused, often finding it difficult to
children with CAH as part of a national audit. Your child
talk about the problem to their family and friends. It is
cannot be identified by anyone from this information and it
also understandable that girls with CAH become upset by
will be fully discussed with you before we do this.
the need for genital examination and surgery, particularly
Information may also be collected for international surveys
if it needs to be carried out in adolescence. These feelings
and audits and this will be fully discussed with you.
of anxiety and distress are completely normal. Specialist
psychological support is available through the SDSD and
Who has reviewed SDSD activity?
can be arranged through your local hospital to help
children and families talk through their worries. Some
National Services Division, NHS Scotland (NSD)
families may find support groups like CLIMB CAH
Director of Health Information & Technology, GCHB
This information leaflet was created in May
2009 by members of the Scottish Disorders of Sex Development (SDSD) Network. SDSD is a
Scotland who have a particular interest on the care of children and young adults where there
may be concerns about the development of
their sex organs. For Further Information Contact:
9th Floor QM Tower
Glasgow G3 8SJ
Tel: 0141 201 0693 Or visit our website: This leaflet will be available in other languages (eg Punjabi, Urdu, Polish) or formats (eg larger print) on request from the
SDSD office or visit the website www.SDSD.scot.nhs.uk
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