CAH Support India / FAQs

CAH Support India is an organisation that was set up to spread the awareness of Congenital Adrenal Hyperplasia in all its forms, across India. This page contains frequently asked questions about Congenital Adrenal Hyperplasia, its diagnosis and treatment. We will be adding relevant information to this page as and when required.

How would I know if my new born baby has Congenital Adrenal Hyperplasia?
As the new born testing for CAH is still not mandatory in every hospital in India, and only some of the large Hospitals include it in the new born testing, it depends on where your baby is born. Unless there is already a child in the family who has the condition, doctors and parents are not especially looking for it. In the case where a previous sibling has CAH, then a child might be consciously tested for it, maybe even within the womb. If not, if your child is born in a large hospital like Manipal, then they will be tested within 2-3 days of birth by a heel prick test. If the 17-Hydroxyprogesterone levels are elevated, then the Paediatric Endocrinologist will confirm if your child has CAH and begin treatment. If your child is not born in a Hospital where CAH testing is mandatory, if they have the condition, then they will go through vomiting and dehydration and have what is called an Adrenal crisis in a few weeks. If a new born baby at any point has persistent vomiting that does not respond to the usual vomiting medication, do not wait. The vomiting may start to look like jelly. The baby may start to look shrivelled up and dark and may stop feeding or passing any urine. The baby may also become unresponsive to any stimuli. These are all alarming signs of an Adrenal crisis and call for rushing to an Emergency room. If you have no other child with CAH in the family, and you are aware that such a condition exists, please check with the Neonatologist if they have tested your new born for CAH even before you are discharged to go home.


If my child is diagnosed with Congenital Adrenal Hyperplasia, what kind of treatment will be started?
If a child has been diagnosed with CAH within the womb (in cases where someone in the family has CAH), the doctor may begin treatment while you are still pregnant. Please discuss this in detail with your Gynecologist and Paediatric Endocrinologist.

If your baby has been tested within a few days of birth and is diagnosed with CAH, the Paediatrician will begin treatment with Hydrocortisone and also Flurocortisone if your baby is salt wasting.

If your baby is not tested at birth for CAH, then it may be only after an Adrenal crisis and dehydration that you as a parent or even the doctor may come to know that your baby has CAH. In which case, based on the severity of the crisis, your baby may be in the NICU on IV for many days while they bring them out of the stress with crisis doses of Hydrocortisone and Flurocortisone. Your baby may have fluid imbalance with very low levels of Sodium and Chloride indicating dehydration and high levels of Potassium. Your baby will also have elevated Androgen levels such as Testosterone. There may also be ambiguous genitals.


What is 17-Hydroxyprogesterone and what does it have to do with CAH?
17-Hydroxyprogesterone is a molecule which is used by the human body and converted to Cortisol. In Congenital Adrenal Hyperplasia, due to insufficient or lack of an enzyme called 21-Hydroxylase, the body is unable to convert this raw material to Cortisol. Due to this, the levels of 17-Hydroxyprogesterone keep increasing. This increased level of 17-OHP is instead converted in the Adrenal gland into unwanted excessive Androgens, like Testosterone. To monitor the treatment of someone with CAH, 17-OHP is tested every month or more frequently, based on each doctor. If the levels of 17-OHP are too high for the relevant age, the doctor will increase the dosage of Hydrocortisone, and decrease the dose if the levels are too low. Thus, it is a crucial indicator in the treatment of CAH. Please always refer with an experienced Paediatric Endocrinologist for interpreting these levels and adjusting any dosage.


What is Hydrocortisone and how does it help someone who has been diagnosed with Congenital Adrenal Hyperplasia?
In a normal person, Hydrocortisone is the main Glucocorticoid secreted by the Adrenal gland. In someone who has been diagnosed with CAH, a synthetic form of Hydrocortisone is provided through injection or orally. Synthetic Hydrocortisone is used in the lifelong treatment of someone with CAH.


What is meant by Adrenal Crisis?
Adrenal crisis is a medical emergency and potentially life-threatening situation requiring immediate emergency treatment. It is a constellation of symptoms that indicate severe adrenal insufficiency caused by insufficient levels of the hormone cortisol.


What is Aldosterone and how is it connected to Congenital Adrenal Hyperplasia?
A steroid hormone produced by the adrenal cortex that controls salt and water balance in the kidney. Abnormally high levels of this hormone cause sodium retention, high blood pressure, heart rhythm irregularities and possibly paralysis. Aldosterone helps regulate fluid levels in the body. Individuals with salt wasting CAH are unable to retain sodium or regulate Potassium. Due to this, they can dehydrate fatally without treatment or management. The loss of salt in the urine is uncontrolled and can cause acute dehydration, and very low blood pressure. The levels of salt (Sodium and Chloride) and sugar(Glucose) fall in the blood, and Potassium levels rise. This can lead to an Adrenal crisis


What is meant by Ambiguous Genitals?
The most common cause of sexual ambiguity is congenital adrenal hyperplasia. A child can be born with a sexual anatomy that is typically female or feminine in appearance with a larger-than-average clitoris (clitoral hypertrophy) or typically male or masculine in appearance with a smaller-than-average penis that is open along the underside.

In girls, this can range from partial masculinization that produces a large clitoris, to virilization and male appearance. The latter applies in particular to Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.


What are Androgens?
Androgens are sex hormones responsible for the development and maintenance of the secondary male sex characteristics, sperm induction, and differentiation between the sexes. In addition to increasing virility, they also increase nitrogen and water retention and stimulate skeletal growth. Androgens are a group of hormones, one of which is Testosterone. The excess Androgens can cause early sexual development. In girls, it can cause abnormal genital development, irregular menstruation, unwanted facial hair and acne. In someone with CAH, since the body cannot convert 17-Hydroxyprogesterone into Cortisol, the excess 17-OHP is instead converted into unwanted excess Androgens. This excess Androgen is used unnecessarily for growth and a child with CAH may grow too soon and be taller for the age. Due to this, their bone age may always be older than their age, and result in them stopping growing much earlier than a normal child. A good Paediatric Endocrinologist is required to manage a child with CAH so that it does not affect their growth too badly.


What is Flurocortisone and why would my baby require it?
If your baby has been diagnosed with the salt wasting form of Congenital Adrenal Hyperplasia, then they lack another Adrenal hormone called Aldosterone, which is required by the body to maintain normal fluid volume, sodium and potassium, and among other functions, also stabilizes the heart. Aldosterone helps regulate fluid levels in the body. Individuals with CAH are unable to retain sodium or regulate Potassium. Due to this, they can dehydrate fatally without treatment or management. The loss of salt in the urine is uncontrolled and can cause acute dehydration, and very low blood pressure. The levels of salt(Sodium and Chloride) and sugar(Glucose) fall in the blood, and Potassium levels rise. This can lead to an Adrenal crisis. Flurocortisone is used for salt wasters to treat the lack of Aldosterone.

Some salt wasters also naturally crave salt. These may vary person to person, and not always have a connection with the Flurocortisone dosage. Also, in normal situations, a salt waster who is on Flurocortisone may not be affected by consuming foods with high Potassium. However, in times close to an Adrenal crisis, excess potassium should be avoided. Consistently low Potassium levels can indicate that the Flurocortisone dosage may be high.

Excessive bed wetting can also indicate that the Flurocortisone dosage is too low and the salt consumption high. But as bed wetting could also be caused by other reasons, it should be thoroughly investigated.


What is meant by Hyperkalemic dehydration?
If your baby was not tested for CAH at birth for some reason, and was diagnosed with CAH only after going through vomiting or dehydration, you may have noticed the mention of Hyperkalemic dehydration in the Discharge summary after diagnosis. Hyperkalemia is condition caused by higher than normal level of potassium in the bloodstream.


What is meant by Hyponatremia?
Again, if your baby was diagnosed with salt wasting CAH only after going through an Adrenal crisis, you may have noticed Hyponatremia on the Discharge summary. Hyponatremia is a disorder of fluid and electrolyte balance caused by excessive release of antidiuretic hormone (ADH).


What are Mineral Corticoids?
A group of hormones (the most important being aldosterone) that regulate the balance of water and electrolytes (ions such as sodium and potassium) in the body. The mineralocorticoid hormones act on the kidney (and specifically on the tubules of the kidney). If your child has salt wasting CAH, and lacks Aldosterone, a synthetic mineral Corticoid like Flurocortisone may be used as a replacement Corticoid.


What does it mean by Virilization?
If you have a girl who is born with CAH, you may have heard the term Virilization. Virilization refers to the development of masculine sex characteristics in a female. This may include an increase in body hair, facial hair, deepening of the voice, and clitoral enlargement. All this is caused by the unnecessary excess Androgens, mainly Testosterone. When the body is unable to produce Cortisol from 17-Hydroxyprogesterone, the excess 17-OHP is instead converted by the body into excess Androgens.


How do I give the medication to my baby?
For infants, you could crush the medication into a fine powder and mix it with either expressed breast milk or formula or boiled and cooled water. Try mixing it in a Palada or a spoon and giving it to your baby after a full feed. It is very important that the medication is only given after a full stomach to avoid hyperactivity or hyperacidity. As your baby gets older, you could start explaining to them about the importance of their medication and how it is crucial that they eat at the right times in order to get their medication at the right time. As they start the school, this is all the more important. They need to know how crucial their medication is so that there are no missed doses. Some schools may be supportive and take responsibility but not all of them might. It is good if both the school and the child can understand how and when the medication must be taken.


What happens if I forget or my child forgets and there are too many missed doses?
Missing doses is not good for someone with CAH. Constantly missing medication could result in elevated levels of 17-Hydroxyprogesterone. It could result in your child looking more tired, having decreased appetite and an increased requirement for sleep. In worst case scenario, it could lead salt wasters to dehydration. It could also have long term damage due to increased production of Androgens from the increased levels of 17-OHP. Girls can masculinize very quickly and become infertile. Males could develop testicular tumors or become impotent.


My doctor told me to watch out for stressful situations and give my child stress dose of medication. What does it mean by stress dose and what are all situations of stress for my child with salt wasting CAH?
In every human body, Adrenal glands secrete more Cortisol in situations of stress. In someone with CAH, especially salt wasting; they are unable to cope with the stress as their body does not produce Cortisol even required to function normally. A situation of stress could be high fevers, vomiting, diarrhoea, infections, viral, surgery, trauma, fracture, or excessive bleeding. Stress doses of Corticoids are required in such situations, where the body would normally produce more Cortisol, but in this case, cannot. Do discuss in detail with your Paediatric Endocrinologist about your child’s particular case and dose accordingly.


When would my child require Corticoid shots?
If your child becomes more ill in spite of stress dose given, or not keeping the medication down due to excessive vomiting or diarrhoea, or high fever, or if your child starts showing any signs of an Adrenal crisis, you might need to take them to the Emergency room for the Corticoid to be given as a shot. If your child is unresponsive, excessively sleepy, tired, confused, has dry lips or no urination, then your child will need to get the Corticoid as a shot along with IV fluids. Once again, check with your Paediatric Endocrinologist for details regarding your child in particular.


Where can I find out more information about CAH?
You can find out more information about CAH at:

The CARES Foundation
Magic Foundation
Living with CAH

Congenital Adrenal Hyperplasia - Articles

CAH Support India - Resources

CAH Support India: Emergency Awareness Handout Pack

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.

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Congenital Adrenal Hyperplasia: A Parents' Guide

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.

MORE INFO

Congenital Adrenal Hyperplasia: A Comprehensive Guide

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.

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Connect with us!

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.

CLICK HERE

CAH Support India: Omkar's Journey with CAH

CAH Support India on Facebook

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:

Step 1: Search for the group page on Facebook.
(https://www.facebook.com/groups/433557750183212/

Step 2: Please request to join.

Step 3: Send a message to the Admin or an email to cahindiasupprt@gmail.com and let us know why you are interested in joining this group.

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