AAP Report on Congenital Adrenal Hyperplasia

The Section on Endocrinology and the Committee on Genetics of the American Academy of Pediatrics (AAP) have developed a technical report on congenital adrenal hyperplasia (CAH). The report provides current information on prenatal diagnosis and screening, methods of diagnosis of affected patients and heterozygote carriers, and newer treatment approaches for patients with CAH. The AAP technical report appears in the December 2000 issue of Pediatrics.

According to the AAP, CAH consists of a family of disorders caused by reduced activity of enzymes required for cortisol biosynthesis in the adrenal cortex. The most common defect is 21-hydroxylase (21-OH) deficiency, which accounts for more than 90 percent of all cases of CAH. Clinical consequences of 21-OH deficiency result mainly from overproduction and accumulation of precursors proximal to the blocked enzyme step. These precursors are shunted into the androgen biosynthesis pathway, producing virilization in the female fetus or infant and rapid postnatal growth with accelerated skeletal maturation, precocious puberty and short adult stature in both males and females. These patients are likely to have a defect in their ability to synthesize aldosterone, which can lead to death from shock resulting from salt wasting during the newborn period.

The AAP technical report states that the objective of prenatal diagnosis and treatment of 21-OH deficiency is the prevention of prenatal virilization in affected female infants and the early recognition of the potential for salt wasting in the newborn infant. The major objectives of newborn screening for CAH attributable to 21-OH deficiency are to identify infants at risk for the development of life-threatening adrenal crisis and to prevent the incorrect male sex assignment of affected female infants with ambiguous genitalia.

According to the AAP, administration of glucocorticosteroids inhibits excessive production of androgens and prevents progressive virilization. Patients with disturbances of electrolyte regulation (salt losers) and elevated plasma renin activity require a mineralocorticoid and sodium supplementation in addition to the glucocorticoid. Patients with nonclassic 21-OH deficiency do not always require treatment.

Safety and Efficacy of St. John's Wort

The Health Technology and Advisory Committee (HTAC) has published a report on St. John's wort. The HTAC was established in 1992 by the Minnesota state legislature. It is an independent, nonpartisan advisory body that evaluates new and emerging health care technologies based on existing scientific research and technology assessments.

According to the HTAC report, St. John's wort has been used as an herbal medicine for centuries; its most common use is in the treatment of mild depression. The exact mechanism of action is unknown.

With the passage of the Dietary Supplement Health and Education Act of 1994, the U.S. Food and Drug Administration has less stringent authority governing the use of St. John's wort; therefore, clinical trials showing safety and effectiveness are not required. The supplement can vary in purity, strength and potency. The HTAC also reports that safety, interactions and toxicity have not been fully studied.

Based on the above information, the HTAC makes the following recommendations:

• All persons should consult their physician before using St. John's wort or other herbal supplements.

• Additional data from well-designed, controlled studies are needed to determine the efficacy and safety of St. John's wort and its potential drug interactions.

• Physicians should ask patients if they are taking any herbal supplements before prescribing any medication.

• Patients should be informed about possible complications and drug and food interactions that may occur.

• Patients who are currently taking indinavir, cyclosporine or digoxin should not take St. John's wort, because it can significantly decrease the blood level concentration of these medications.

• Women should be informed that the effectiveness of oral contraceptives could be reduced by St. John's wort or any herbal supplement

• Because of a lack of clinical data, women who are pregnant or nursing should consult their physician before taking St. John's wort or any other herbal supplement.

This report (document no. 001203) and others published by the HTAC may be obtained by calling 651-282-6374 or by e-mail (htac@health.state.mn.us/). There is no charge for the reports. All reports are also available on the HTAC Web site at http://www.health.state.mn.us/htac/index./htm.

Blood Test for Diagnosis of Congestive Heart Failure

The U.S. Food and Drug Administration (FDA) has granted marketing clearance for the Triage BNP Test. This is the first blood test to be approved in the United States as an aid in the diagnosis of congestive heart failure (CHF).

According to the manufacturer, the Triage BNP Test is a rapid, point-of-care immunoassay that uses approximately six drops of whole blood or plasma to measure circulating levels of B-type natriuretic peptide (BNP). BNP is released by the left ventricle of the heart when it experiences ventricular overload and ventricular stretch. The resulting loss in pumping action is viewed as an important clinical determinant in diagnosing CHF. Levels of BNP are elevated during heart dysfunction in both symptomatic and asymptomatic patients with CHF.

In pre-submission clinical studies involving more than 1,200 patients at eight sites, the Triage BNP Test was both highly sensitive and specific in identifying patients who had CHF, compared with patients without CHF. Patients with chronic obstructive pulmonary disease who had symptoms similar to patients with CHF did not have elevated BNP concentrations.

The Triage BNP Test takes about 15 minutes and can be used in hospital emergency departments and heart failure clinics for accurate diagnosis of patients who are experiencing shortness of breath or other symptoms associated with CHF. The FDA has determined that the test is appropriate for use in patients 55 years and older. More information on the Triage BNP Test is available on the manufacturer's Web site (http://www.biosite.com/products/bnp).

NIAMS Issues Booklet on Sjögren's Syndrome

Sjögren's syndrome is the topic of a new booklet issued by the National Institute on Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH). “Questions and Answers About Sjögren's Syndrome” is a free comprehensive guide for patients with this autoimmune disease. The booklet was released in January 2001.

In patients with Sjögren's syndrome, the immune system turns against moisture-producing glands and causes dryness in the mouth and eyes. Other parts of the body, such as skin, joints, muscles and the nervous system, may also be affected, resulting in a wide range of possible symptoms. Sjögren's syndrome can occur on its own or secondary to other diseases. About 1 to 4 million persons in the United States are believed to have Sjögren's syndrome; 90 percent are women.

The 36-page NIAMS booklet includes information about symptoms, who is typically affected, causes, diagnosis, treatment and ongoing research. The booklet also discusses how to live with Sjögren's syndrome, offers tips on eye care, oral hygiene and how to protect the voice, and provides a list of medications with side effects that can contribute to dryness of the eyes and mouth. The booklet also lists about 20 professional, voluntary and government organizations that can provide information on various aspects of the disease.

For a free copy of “Questions and Answers About Sjögren's Syndrome” (NIH publication no. 01-4861), write to the NIAMS Information Clearinghouse, NIAMS/NIH, 1 AMS Circle, Bethesda, MD 20892-3675, or call 877-22-NIAMS (877-226-4267). The booklet is also available online at http://www.nih.gov/niams/healthinfo/sjogrens/htm.