People with Congenital Adrenal Hyperplasia, CAH for short, have problems making some hormones in their adrenal glands but not others. Therefore the levels of adrenal hormones are different from a person without CAH. This can cause some problems.
Why do people with CAH have different levels of hormones?
Interestingly all the adrenal gland hormones are made from the same stuff but have gone through different processes. So like flour could be made into bread or pancakes or cake, cholesterol can be made into aldosterone, cortisol or androgens. The different processes are managed by enzymes.
So if we take the most common type of CAH when there is a problem with the enzyme 21 hydroxylase which manages some of these processes as an example. Because this enzyme doesn’t work the adrenal gland can’t make enough cortisol and also sometimes aldosterone but it can make androgens.
Because adrenocorticotrophin hormone, ACTH for short, from the pituitary gland can’t make the adrenal gland make cortisol it puts all its efforts into making androgens and therefore there is way too much androgen in the blood. So if we go back to the flour comparison, if it can’t be processed into bread or pancakes we end up with too much cake. Sounds too good to be true – not so - read on.
How will the different levels of hormones in CAH affect me?
Cortisol and aldosterone are the really important ones and these aren’t being made or not made in enough amounts and androgens are the least important and there is way too much of them!
Not enough cortisol, the most important hormone in the body, means that your body won’t function properly, you may feel more tired and, most importantly, you can become really unwell. This is particularly so if you get stressed, like when you are ill or when you are doing exams, when you need much higher levels, so you can become really really unwell and have to be admitted to hospital.
For those that can’t make aldosterone as well. Not enough aldosterone means that your body can't hold onto salt, which means that your body can’t hold onto water. This means that you will be too dizzy to stand up and dry out like a crisp. So like when you can't make enough cortisol, you can become really really unwell and have to be admitted to hospital.
Too much androgen being produced by the adrenal glands, the most famous androgen is testosterone. Girls mostly need oestrogen and only a small amount of androgen, so too much androgen is not needed and can cause:-
Getting control of your hormones in CAH is easy or relatively easy with medication. The aim of the medication is to give your body back the hormones you are not making, cortisol and sometimes aldosterone by taking hydrocortisone and sometimes fludrocortisone, and stop your body making too much androgen also by taking hydrocortisone. Although it takes a lot of work by you because you have to get into a good system for taking your medication. It also takes a lot of work by the doctors who need to try and get the medication right for you. That’s why it really helps if you are in a good system because the doctors can then tell if they have to put up or put down the doses of medication. Let them know if you are finding it difficult to get into a good system.
Why do I need to take hydrocortisone?Hydrocortisone is called cortisol when it is produced by the adrenal gland. Hydrocortisone is the same as cortisol. Hydrocortisone has two jobs.
Cortisol is THE MOST IMPORTANT HORMONE IN THE BODY. In CAH you don’t make enough therefore you must take your hydrocortisone medication every day to keep you well and increase it if you become unwell otherwise you can become SERIOUSLY unwell. Hydrocortisone comes as a small tablet that has to be taken every day. Unfortunately it has to be taken three or four times a day because it doesn’t stick around in your body that long – so if you don’t take it every 4 or so hours your body runs out which may make you tired. Try and find ways to make it easy for you to remember. Your doctor will ask you how you are feeling and if you are finding it difficult to remember particularly the lunch time dose (so tell them).
Are there any other benefits in taking hydrocortisone?Yes, by taking hydrocortisone not only will you remain well and out of hospital it will also return your androgen levels back to normal. Too much androgen, the most famous of which is testosterone, being produced by the adrenal glands in CAH is not needed in girls. By taking hydrocortisone:--
Are there any alternatives to hydrocortisone?
Yes but only when you have stopped growing. Hydrocortisone is best when you are growing, the others can make you grow less well. The alternatives are prednisolone and dexamethasone. The reason to swap include difficulty taking hydrocortisone three or four times a day which may mean you run out of energy or your androgens are too high. Both prednisolone and dexamethasone are stronger and last longer in the blood so you may only have to take it once or twice a day.
If I become unwell what should I do with my hydrocortisone?
THIS IS VERY IMPORTANT. If you become unwell, I mean properly unwell, something that makes you feel that you want to stay at home or go to bed, something like flu, a nasty sore throat or feeling/being sick with or without diarrhoea you should take double doses of hydrocortisone and let your family or your doctors and nurses know. Sometimes if you are being sick or just aren’t getting any better you may need an injection of hydrocortisone. You may have one at home or you may need to come to hospital. Make sure when you are out you carry a steroid card or wear a bracelet or necklace which says you are on hydrocortisone, as well it is good to tell your friends just in case something happens so that other people know to give you hydrocortisone. I know it sounds dramatic but it is about being safe. Make sure you talk this through with your doctors and nurses.
How will the doctors know that I am on the right dose of hydrocortisone?
Firstly you have to try and take all the hydrocortisone tablets at the right times, doctors and nurses know it is difficult, if you are struggling let them know. If they don’t know they will think you are on not enough and increase the number of tablets which you will still find difficult to take so best to let them know.
Secondly the doctors and nurses will ask you how you are feeling and whether you get tired. They may also ask about unwanted hair. They will also look at how you are growing and also where you are in puberty. If you are already through puberty they will ask whether your periods are coming regularly.
Thirdly they will measure your androgen levels. The best ones to measure are called androstenedione, 17 OHP and testosterone levels. The aim is to get them normal.
Fourthly they may do an xray of your hand and wrist see if your bones are older than you are! WEIRD! This is because the androgens age the bones on the inside, so you could be 12 on the outside but your bones could look as though they are 14 years old. This is important because it tells the doctors that you have 2 less years of growing than they thought.
Why do I need to take fludrocortisone?
Fludrocortisone is called aldosterone when it is produced by the adrenal gland. Fludrocortisone is the same as aldosterone. Not everybody with CAH needs to take fludrocortisone. If you have what is sometimes called "salt wasting" CAH you do need to take it to help your kidneys hold onto salt. If you don't take it it can make you feel really unwell. If you lose too much salt you can start to feel dizzy and sickly. You have to take it once a day. Try and find ways to make it easy for you to remember. Your doctor will ask you how you are feeling and if you are finding it difficult to remember to take them (so tell them).
How will the doctors know that I am on the right dose of fludrocortisone?
Firstly you have to try and take fludrocortisone regularly, the doctors and nurses know it is difficult, if you are struggling let them know. If they don’t know they will think you are on not enough and increase the number of tablets which you will still find difficult to take so best to let them know.
Secondly the doctors and nurses will ask you how you are feeling and whether you get dizzy. They will also check your blood pressure as it can be low if you are not taking enough.
Thirdly they will measure your renin levels. These are high if you are not on enough fludrocortisone. The aim is to get them normal.