About CAH / Diagnosis

1-hydroxylase deficiency Congenital Adrenal Hyperplasia is usually diagnosed by elevated levels of 17-Hydroxyprogesterone, with or without low Cortisol levels in a patient’s blood sample. The raw material hormone 17-Hydroxyprogesterone is not able to metabolize to Cortisol, due to a lack of or diminished supply of 21-hydroxylase.

This leads to low Cortisol level. Low Cortisol levels causes the Pituitary to stimulate more ACTH meant to stimulate the Adrenal glands to produce Cortisol. CAH individuals are unable to do so. The extra ACTH stimulation causes an increased level of 17-Hydroxyprogesterone. This excess 17-OHP is instead metabolized by their body to produce unwanted excess Androgens. Androgen hormones like Androstenedione, Testosterone and DHEA levels are elevated for the given age and sex of CAH people.

The Gene for the 21-hydroxylase enzyme can also be used for evaluation by DNA Analysis, which determines if the gene is present or absent or if it is mutated.

Sometimes when a new born baby is suspected of having CAH, electrolyte levels of sodium, potassium, chloride and renin will be checked. Ultrasounds are also conducted to check the Adrenal glands.


CAH: New Born Screening
New born screening for Congenital Adrenal Hyperplasia is performed by measuring the levels of 17-Hydroxyprogesterone, in a tiny blood spot obtained on a filter paper by heel prick at 2-3 days.

Congenital Adrenal Hyperplasia Features

Diagnosis

1-hydroxylase deficiency Congenital Adrenal Hyperplasia is usually diagnosed by elevated levels of 17-Hydroxyprogesterone, with or without low Cortisol levels in a patient’s blood sample.

Symptoms

The primary issue in Congenital Adrenal Hyperplasia is the inability of the adrenal glands to create enough cortisol in all clinical forms of CAH and in addition, inability to make enough aldosterone in the salt-wasting form.

Glucocorticoid Treatment

This treatment is given for anyone with CAH, irrespective of whether they are salt wasting or not. It has to be sufficient to replace the deficient or missing Cortisol, and at the same time, it has to prevent the Adrenal glands from over producing Androgens.
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Mineralocorticoid Treatment

In the case of someone with salt wasting CAH, in addition to the Glucocorticoids, they also require a Mineralocorticoid or Flurocortisone, to replace the deficient Aldosterone which is required to regulate salt and fluid levels and to maintain normal blood circulation. 

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.

MORE INFO

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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