Purpose of this website is to create awareness
among the people about CAH. Text from different websites related to CAH is
collected and organized on this website so that people can find useful
information about this condition easily. In the Forum section, people can
discuss their problems and experiences with others.
Congenital Adrenal Hyperplasia (CAH)
What is it?
Congenital adrenal
hyperplasia (CAH) refers to any of several autosomal recessive diseases
resulting from defects in steps of the synthesis of cortisol from cholesterol by
the adrenal glands. Most of these diseases involve excessive or defective
production of sex steroids and can pervert or impair development of primary or
secondary sex characteristics in affected
infants, children, and adults. Only a small minority of people with CAH can be
said to have an intersex condition, but this attracted American public attention
in the late 1990s and many accounts of varying accuracy have appeared in the
popular media.
The human body has two adrenal glands, one on top of each kidney. These glands
form part of the endocrine system, which works in conjunction with the nervous
system and the immune system to help the body cope with different events and
stresses. Adrenaline is the most well known hormone secreted by the adrenal
glands. Other important hormones include cortisol, aldosterone and the sex
hormone androgen. All these hormones are synthesised from cholesterol, which is
an oily substance manufactured by the body and found in animal, and some
vegetable, products. Particular enzymes are needed to help convert cholesterol
into the adrenal hormones. The underlying problem in CAH is that that not enough
of these enzymes are produced. This is due to a genetic or inherited 'fault'.
The symptoms of the disorder depend on the particular enzymes affected. There is
no cure for CAH, but the disorder can be managed very well with medications.
Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency in which
the enzyme that produces two important adrenal steroid hormones, cortisol and
aldosterone, is deficient. Because cortisol production is impeded, the adrenal
gland instead overproduces androgens (male steroid hormones). Females with CAH
are born with an enlarged clitoris and normal internal reproductive tract
structures. Males have normal genitals at birth. CAH causes abnormal growth for
both sexes; patients will be tall as children and short as adults. Females
develop male characteristics, and males experience premature sexual development.
In its most severe form, called salt-wasting CAH, a life-threatening adrenal
crisis can occur if the disorder is untreated. Adrenal crisis can cause
dehydration, shock, and death within 14 days of birth. There is also a mild form
of CAH that occurs later in childhood or young adult life in which patients have
partial enzyme deficiency. CAH, a genetic disorder, is the most common adrenal
gland disorder in infants and children, occurring in one in 10,000 total births
worldwide. It affects both females and males. It is also called adrenogenital
syndrome.
