Salt wasting Congenital Adrenal Hyperplasia:
Salt wasters have the most severe enzyme deficiency, and produce very little or no Cortisol and Aldosterone. A child born with salt wasting CAH will surely be diagnosed within a few weeks of birth, as he or she will either be diagnosed during a mandatory test wherever it is done, or will go through an Adrenal Crisis, which can be fatal unless it is diagnosed immediately and treated.
In babies, all these are symptoms of salt wasting CAH:
- Ambiguous genitals in girls
- Adrenal crisis is girls and boys
- Lack of feeding
- No urination
- Weight loss
- Restless sleep
- Low body temperature
- Being unresponsive
- Prolonged jaundice
An Adrenal Crisis is life threatening, with electrolyte imbalance, poor blood circulation and hypoglycemia or low blood sugar. In babies with CAH, it is the lack of Cortisol and Aldosterone that leads slowly towards this. In children or adults with CAH, an Adrenal crisis can be triggered by any illness or episode, like vomiting, diarrhea, infection, trauma or surgery.
Simple virilizing Congenital Adrenal Hyperplasia:
In simple virilizing CAH, the body is unable to make Cortisol, but its ability to make Aldosterone is almost normal.. it is diagnosed only when symptoms of increased Androgen shows up, not by early Adrenal crisis.in this case, girls born may have ambiguous genitals, just like in salt wasting, which may result in diagnosis at birth. But due to this, boys born this way, may miss being diagnosed at birth, and go undetected until there are signs of early puberty. But, although Aldosterone production is normal, they can have elevated levels of Renin. Renin is produced by the kidneys. Its elevated levels can indicate blood volume being too low. So, those born with this form of CAH, may still need Mineralocorticoids, similar to salt wasters.
All these are symptoms of simple virilizing CAH:
- Masculine genitals in girls
- Enlarged genitals in boys
- Early puberty
- Early pubic hair
- Acne or premature growth
Late onset Congenital Adrenal Hyperplasia:
In this form of CAH, both Cortisol and Aldosterone production is almost normal, and only Androgen levels are elevated. This can cause problems of hormone imbalance and infertility. Girls can have masculine genitals. Boys and girls can have early puberty. Women can have hirsuitism, acne, balding, muscular build and a low voice. They can also have improper menstrual cycles or cessation of menstruation and infertility. Men can have problems of infertility.
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 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.
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.
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.
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: