New Patient Guide On Congenital Adrenal Hyperplasia From The Hormone Foundation

Main Category: Endocrinology
Also Included In: Genetics
Article Date: 20 Oct 2010 - 6:00 PDT


The Hormone Foundation recently released a patient guide on congenital adrenal hyperplasia (CAH) as a companion piece to The Endocrine Society's clinical practice guideline for physicians. The patient guide describes this genetic disorder that interferes with the adrenal glands' ability to make proper amounts of cortisol, aldosterone and androgens. The most common form of CAH results from having too little cortisol-the so-called stress hormone essential to survival-and too little aldosterone, which regulates water balance and blood pressure, along with too much androgen, a male sex hormone.

CAH can range from mild to severe. The most severe form can cause life-threatening vomiting, weight loss and dehydration in the first weeks of life. To prevent such a crisis, babies are tested for CAH shortly after birth in most developed countries. Excess androgens can lead to ambiguous genitalia in baby girls-genitals that may look more male than female, even though a girl's internal reproductive organs are normal.

The patient guide outlines treatment options, which may include life-long daily medication to replace the lacking hormones and, for girls, surgery to correct ambiguous genitalia. People with severe CAH should carry medical identification warning that they need an immediate injection of life-saving hydrocortisone in the event of an emergency. Milder forms of CAH may not need any treatment. Patients and parents are advised to closely following their physician's instructions.

The patient guide is available here.

Source:
The Endocrine Society

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