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Guidelines Developed for Congenital Adrenal Hyperplasia

Last Updated: September 09, 2010.

Clinical practice guidelines for congenital adrenal hyperplasia have been developed by a task force of The Endocrine Society and published in the September issue of the Journal of Clinical Endocrinology & Metabolism.

THURSDAY, Sept. 9 (HealthDay News) -- Clinical practice guidelines for congenital adrenal hyperplasia (CAH) have been developed by a task force of The Endocrine Society and published in the September issue of the Journal of Clinical Endocrinology & Metabolism.

Phyllis W. Speiser, M.D., of the Hofstra University School of Medicine in New Hyde Park, N.Y., chaired the task force, which included experienced clinicians, a methodologist, and a medical writer. The task force consulted with outside experts as needed. The guidelines were crafted using systematic evidence reviews and discussion through sequential stages; written comments were solicited at each stage of guideline development.

The task force recommended universal newborn screening for severe steroid 21-hydroxylase deficiency, with genotyping reserved for equivocal cases or for use in genetic counseling. The authors suggest that prenatal treatment of CAH should continue to be thought of as experimental. Mineralocorticoids are recommended for clear-cut symptoms, as well as supplemental salt in infants, but glucocorticoids should be minimized to avoid short- and long-term adverse effects, according to the guidelines. The task force writes that early genital repair for severely virilized girls should be considered, as should quality-of-life issues, which may require consultation with mental health professionals.

"Because patients vary widely in coping with functional impairments, we consider the assessment of quality of life of equal importance to the assessment of functional impairment when evaluating the outcome of comprehensive clinical management," the authors write. "Until standard measures that are sensitive to the specific psychosocial issues of patients with disorders of sexual development and CAH have been developed, clinicians need to adopt existing measures and rating scales from other areas of chronic care."

Two authors disclosed financial relationships with the pharmaceutical industry.

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