The dosage is very crucial as over dose could have many side effects. Finding the right dose where the condition is treated correctly but at the same with no side effects, is managed by an experienced Paediatric Endocrinologist. This delicate balance between not enough and too much is managed by the right doctor. If your child has CAH, finding the right doctor is crucial to lifelong management.
If the Glucocorticoid is not enough, the condition will not be treated correctly. This can result in not enough Cortisol. With too little Cortisol, someone with CAH will be unable to cope with any physical stress or illness or trauma. They will be unable to manage blood sugars, allowing their blood sugar to drop too low. They will be tired all the time and may slowly dehydrate with any activity. Their appetite will be poor and their requirement for sleep will be excessive. Too little Glucocorticoid will also result in excessive Androgens, leading to excessive growth or early puberty. Sudden excessive growth can cause the growth plates to close early, leading to loss of inches in adult height. It can also result in making them vulnerable to illness and Adrenal crisis. Long term, it can make them infertile.
If the Glucocorticoid treatment is too much, it can inhibit growth. There could be weight gain or a reduction in immunity which could make them vulnerable or at a risk for various issues. There will be sleeplessness and excessive appetite. Suddenly the face looks bloated or swollen or puffy. This group of steroid is different from Anabolic steroids used by athletes for strength. Those are synthetic forms of the Androgens themselves. But, since all hormones from cholesterol are called steroids, even the Glucocorticoids fall under them. Glucocorticoids used for Arthritis or skin issues or similar conditions are usually given in very high doses than is normal for the human body. That results in major side effects. It can create thinning of the skin making them susceptible to injury. It can result in bone density loss. It can put them at high risk to infections. It can even cause anxiety. However, the dose used to treat CAH is much lower, very similar to what the human body normally makes. It should be much safer. As Adrenal insufficiency and Glucocorticoid treatment is life-long, unless a doctor strikes the perfect balance of dose, such side effects can be there.
Androgen overproduction is achieved by the same Glucocorticoid given for CAH. Someone with CAH overproduces Androgen when ACTH levels rise. In CAH children, when the Pituitary senses that there is not enough Cortisol in the bloodstream, it releases a hormone called ACTH (Adrenocorticotropic hormone). ACTH in turns stimulated the Adrenal glands to produce more and more Cortisol. With Glucocorticoid treatment, the body senses that there is a rise in Cortisol levels, and in turn stops releasing ACTH. Thus, Androgen overproduction is reduced.
Worldwide there are three kinds of Glucocorticoids used in the treatment of CAH, Hydrocortisone, Prednisone and Dexamethasone. Hydrocortisone is what is used most widely. Each of these varies from the others by the potency and the duration of action. Hydrocortisone is the mildest of all the three. In India, Hydrocortisone is available as a tablet. It is available elsewhere a s a liquid, but as its ability to dissolve is limited, everywhere the tablet is preferred. The only problem with the tablet is dosing. Minor increase or decrease in dosage is difficult to manage due to the inability to break the tablet down to those exact doses. In this kind of division, the exact dosage required may not actually be given. A pill cutter will help to manage this better. Also, if the tablet is powdered and mixed with water to give babies, some amount may be lost by sticking to the spoon. If it is chewed as well, some portion of it may be lost sticking to the teeth. It is best if it can be swallowed when the child is ready to.
Your child’s doctor will decide the dosage and the times it has to be given. Since the Glucocorticoid has to also block Androgen production by the reduced level of ACTH which the body creates when it senses the presence of Cortisol, dosage may be given most when ACTH and Cortisol levels normally rise in a human body. Some doctors may give a higher dose when this happens at early morning, and some others may do so the previous night in anticipation of the next day’s rise. Every Glucocorticoid dose must be given after a full stomach only to avoid stomach irritation or restlessness.
Monitoring glucocorticoid treatment in CAH
Monitoring treatment is as crucial as the treatment itself, or even more so. Every country or doctor may have their own parameters to with reference to this.
Regular follow ups with the endocrinologist
A Paediatric Endocrinologist or a Doctor who is specially trained to treat Endocrine Disorders in children, is someone who is a very important part of your life, if you have a child with CAH. Due to the fact that the condition is so rare, only about 1 in 15000 births has CAH, many regular Paediatricians may never have seen a child with CAH. Even those who are aware may never have actually treated a child with CAH. They will not be equipped to manage your child through the complex stages of CAH. So first of all, make sure that you as a parent find a good Paediatric Endocrinologist. Make sure you see the same Paediatric Endocrinologist, and resist seeing different ones, even if someone suggests another one. This is because the same Endocrinologist seeing your child will be able to recall every detail of your child and CAH, especially at crucial times like in an Adrenal crisis. This kind of information may be crucial at rare times. In an Emergency, you will not end up wasting time in sharing information about your child to a new doctor. Secondly, your doctor will become familiar with subtle changes in your CAH child, and notice any differences, and this will help them to observe signs of over treatment or under treatment of your child.
Before each visit, your child’s Endocrinologist will ask you to repeat the blood work which they require. Usually this is to check the levels of 17-Hydroxiprogesterone. The time of the day the blood is drawn is usually in the morning before taking the morning dose of the Glucocorticoid. As 17-OHP is the raw material hormone that is used by a normal human body to make Cortisol, in someone with CAH, this becomes a crucial tool to assess. If the 17-OHP level is elevated, their requirement for Glucocorticoid is greater. In this case, the doctor may consider changing the dosage or increasing it slightly, based on other factors. If the 17-OHP level is too low, the doctor may consider decreasing the Glucocorticoid dosage. But, also remember that many things can cause the 17-OHP level to be elevated at a particular time. If your child was excessively upset while drawing the blood, causing them to be stressed, it can be elevated. It can also be high if they have recently been ill. If your child was recently ill, wait a while before testing. Changes to the Glucocorticoid dose is only made by the doctor. This is only monitored and decided by the Endocrinologist, based on many other factors. Never change a dosage by yourself. There are too many factors involved in CAH. Each Paediatric Endocrinologist may also ask for other tests, based on their requirement to assess.
Each time you take your child to the Endocrinologist with the reports of whatever tests they had asked for, the doctor’s office will measure height, weight and blood pressure. The doctor will also check for signs of puberty and for subtle signs of over treatment or under treatment. Some doctors may also start doing an arm x-ray to determine the bone age of your CAH child.
Signs of under treatment with Glucocorticoids, in India Hydrocortisone, can be many. If the treatment is not enough, your child may grow too fast. They may also be tired all the time with poor appetite and the need for more sleep. They may also get upset easily or cry easily, or become overwhelmed in very minor situations. There could be premature appearance of body hair.
Signs of over treatment with Glucocorticoids are slowing down of growth. Your child may have excessive hunger and not require as much sleep. They may look puffy and bloated in the face. They may gain too much weight.
Bone age monitoring
In CAH children, one of the best tools to monitor is the x-ray of the arm and the bone age assessment.
In CAH, as excessive Androgens leads to rapid growth, it can result in early closure of the growth centers. The growth centers in the skeleton can be seen clearly in an x-ray of the arm. Standards have been established for characteristic shape and size of the bone at each stage. In CAH, if there has been rapid growth of a child due to either late diagnosis or in under treatment with Glucocorticoids, the bone age can be much greater than the actual age. For example, the bone age of a 5 year old may be that of an 8 year old. If there has been over treatment with Glucocorticoids bone age could be delayed. A 5 year old’s bone age could be like a 3 year old’s bone age.
If the treatment has been correct, then the bone age and the chronological age will be approximately the same. Interpretation of the x-ray can vary doctor to doctor.
Bone age is often used to predict height. Due to the connection between bone age and current height, adult height can be projected. However, this is not always precise.
We understand how challenging it can be for parents of CAH children, who need to manage so many things.
In the first of a series of handouts for parents, we have created an Emergency Awareness Handout Pack that includes a handout for Schools and a bonus handout for parents.
by C. Y. Hsu and Scott A. Rivkees MD
CAH is an inherited disorder of the adrenal glands. Its effects can be wide-ranging and serious-from problems of ambiguous genitalia in baby girls; to problems with growth and physical development; to problems with infertility and hormone imbalance.
by Peter C Hindmarsh and Kathy Geertsma
Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important.
We have created a Facebook page called Omkar's Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.
Mobirise themes are based on Bootstrap 3 and Bootstrap 4
Publish your website to a local drive, FTP or host on Amazon S3, Github.
The Congenital Adrenal Hyperplasia Support India group on Facebook is a closed group and is for discussion and sharing of information relevant to Congenital Adrenal Hyperplasia only. This is a safe place for parents whose children have CAH to exchange and seek information that might help them deal with the problem. Note that posts which are not relevant to CAH and which are advertisements for sales of products, services or groups will be deleted and the person posting the message will be removed from the group without notice. If you wish to join this group: