What is Congenital Adrenal Hyperplasia?

What is Congenital Adrenal Hyperplasia?

Congenital Adrenal Hyperplasia (CAH) is an inherited condition that affects hormone production in the adrenal gland. The individual lacks enzymes to make cortisol, and hormones are instead are shifted away to make other hormones, specifically androgens. This results in the deficiency of cortisol and the abundance of testosterone.

There are 2 types of CAH; classical and non-classical CAH. Classical CAH is the severe form of which there are 2 subtypes, salt-wasting and non-salt-wasting. Salt-wasting CAH is comprised of over 75% of all individuals with Classical CAH who also lack another adrenal hormone called aldosterone. Aldosterone functions to stabilize the heart and does so by maintaining normal sodium and potassium levels. The deficiency of aldosterone leads to the failure to retain enough sodium as too much sodium is lost in urine. The remaining 25% who produce sufficient aldosterone are referred to as “simple virilizers,” or non-salt-wasting cases. Non-classical CAH is the milder form or the late-onset type and is a much more common than classical CAH.

Causes

CAH is an autosomal recessive genetic disorder and males and females are affected in equal numbers. Chromosome 6 is where the group of genes lie that causes the most common forms of CAH. Adrenocorticotropic hormones (ACTH) are released by the anterior lobe in the pituitary gland. Its role is to act on cells of the adrenal cortex which then synthesizes corticosteroids and cortisol. However, those with CAH have insufficient amounts of the enzyme 21-hydroxylase, needed to convert 17-hydroxyprogesterone (17-OHP) into cortisol.

This leads to the continued release of ACTH, resulting in a surplus of 17-OHP, which is converted in the a...

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...used; the individual has to be on large amounts of steroids for the rest of their life. There has been deaths and reports of adrenal crisis with this surgery. Adrenal crisis is a life threatening condition that happens when there isn’t enough cortisol in blood circulation.

There is also counseling, with peer support, and support groups this can be very helpful. There are 3 support groups I found, National Adrenal Diseases Foundation, The MAGIC foundation, and the CARES foundation. All of them are focused to improve the lives of individuals with this disease.

There are many different types of counsellors available; genetic counsellors, endocrinology clinic counselors, peer supporters, and parental counseling. Successful surgery depends on the attitude of the parents. It is important both parents are informed about the operation. Support groups may help in this area.