Magazine article The Exceptional Parent

CARES Foundation, Inc. (Organizational Spotlight)

Magazine article The Exceptional Parent

CARES Foundation, Inc. (Organizational Spotlight)

Article excerpt

CARES (Congenital Adrenal hyperplasia Research, Education and Support) Foundation, Inc. is a non-profit, educational organization. Its purpose is to educate the public and physicians about all forms of congenital adrenal hyperplasia (CAH), its symptoms, diagnostic protocols, treatment, genetic frequency, the necessity for early intervention and benefits of newborn screening. It is also dedicated to providing support and information to affected individuals and their families.

Congenital adrenal hyperplasia (CAH) is a family of inherited disorders affecting the adrenal gland. The most common form is 21-hydroxylase deficiency, which is inherited in severe or mild forms. The severe form, called classical CAH, is usually detected in the newborn period or in early childhood. The genetic frequency of classical CAH is approximately 1 in 15,000 births. The milder form, called non-classical CAH (NCCAH), may cause symptoms at anytime from infancy through adulthood. Non-classical CAH is a much more common disorder than classical CAH. It affects 1 in 100 in the general population of New York City and is most common in certain ethnic groups. It affects i in 27 Ashkenazi Jews, 1 in 40 Hispanics, 1 in 53 Croatians, and 1 in 300 Italians. This frequency makes NCCAH the most frequent genetic disorder identified to date.

CAH and NCCAH are autosomal recessive genetic disorders. Scientists have pinpointed the location of the group of genes that causes CAH to chromosome 6. DNA testing is now available for diagnosis of CAH and NCCAH and to detect carriers of the gene mutations.

This particular group of genes contains instructions that the adrenal glands (which are located on top of the kidneys) need in order to produce a certain enzyme (21-hydroxylase). Without this enzyme, the adrenal glands are unable to synthesize cortisol, a hormone necessary for life, in physiologically sufficient amounts. To compensate for this, the pituitary gland in the brain stimulates the adrenal gland to produce more steroid precursors. As a result, however, androgens (masculizing steroid hormones) are produced in excessive amounts. In addition, more than 75 percent of all babies with classical CAH lack another adrenal hormone, aldosterone, which regulates sodium and potassium, necessary for maintaining normal fluid volume of the body. These babies become very ill soon after birth if not diagnosed and treated promptly. The remaining 25 percent, who produce sufficient aldosterone, are called "simple virilizers."

Classical CAH

Salt-wasting classical CAH must be detected at birth to avoid adrenal crisis, which can lead to death. Infant females generally come to medical attention because the disorder causes affected females to exhibit recognizable genital abnormalities The clitoris is usually enlarged, and may even look like a small penis, and the labial folds may be joined to resemble the scrotum. Sometimes, if the, extent of ambiguity is great, the female baby may be misidentified as a male. These abnormalities are only external. The female reproductive internal organs are not affected and are intact. Male babies with CAH appear normal at birth. Newborn males show no other outward signs of the disorder and are sent home without treatment. These babies sometimes present for urgent medical attention at a time when they are beyond resuscitation.

Because the condition is life-threatening if not treated soon after birth, many states require newborns to be screened for classical CAH. Currently, less than half of our states screen newborns for CAH as part of routine newborn screening testing. CARES Foundation, Inc. is working to expand newborn screening for CAH.

Non-classical CAH (NCCAH), is much more common than classical CAH. A study of New York residents found it affected 1 in 100 people. But--perhaps because it is less severe and harder to recognize than the classical form of the disease--NCCAH has not received the attention it deserves as a widespread condition that affects health and quality of life. …

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