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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
Congenital: As the condition is present from birth it is
Managed Clinical Network
Adrenal: 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 Hyperplasia: 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. Medical treatment
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 their families
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 Information gathering
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:

SDSD Office
9th Floor QM Tower
Yorkhill Hospital
Dalnair Street
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


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