Practice Guideline Recommends Universal Newborn Screening for Congenital Adrenal Hyperplasia

Laurie Barclay, MD

September 13, 2010

September 13, 2010 — Universal newborn screening is recommended for congenital adrenal hyperplasia (CAH), according to the new Clinical Practice Guideline from The Endocrine Society, published in the September issue of the Journal of Clinical Endocrinology & Metabolism. The new recommendations call for universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests.

Incidence of CAH, a genetic disorder of the adrenal glands affecting infants of both sexes, is approximately 1 in 10,000 to 20,000 newborns. Steroid 21-hydroxylase deficiency results in an imbalance in production of the steroid hormones cortisol, aldosterone, and androgens. Therefore, manifestations of CAH may include ambiguous genitalia in newborn girls, infertility, and early virilization with appearance of pubic hair and rapid growth in both sexes before the expected age of puberty.

An expert task force developed these evidence-based clinical guidelines, which are endorsed by the American Academy of Pediatrics, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Endocrinology, the Society for Pediatric Urology, the Androgen Excess and PCOS Society, and the CARES Foundation.

"If CAH is not recognized and treated, both girls and boys undergo rapid postnatal growth and early sexual development or, in more severe cases, neonatal salt loss and death," said task force chair Phyllis W. Speiser, MD, from Cohen Children's Medical Center of New York and Hofstra University School of Medicine, in a news release. "We recommend that every newborn be screened for CAH and that positive results be followed up with confirmatory tests."

Members of the task force were a chairperson chosen by The Endocrine Society Clinical Guidelines Subcommittee (CGS), 10 additional clinicians with expertise in treating CAH, a methodologist, and a medical writer, none of whom received corporate funding or remuneration. The task force also consulted additional experts, as appropriate.

Systematic reviews of evidence and discussions led to consensus opinions, and the guidelines were then reviewed and approved sequentially by The Endocrine Society's CGS and Clinical Affairs Core Committee. Additional input was provided by members responding to a Web posting and by The Endocrine Society Council.

Specific clinical recommendations regarding CAH include the following:

  • Universal newborn screening for CAH steroid 21-hydroxylase deficiency is recommended, followed by confirmatory tests for patients with positive screening results.

  • Because prenatal treatment of CAH is still considered to be experimental, it should be given only through protocols approved by institutional review boards at centers capable of collecting outcomes data on a large number of patients. Following such protocols should facilitate more precise definition of risks and benefits of this treatment.

  • Clinical and hormone data should be the mainstay of diagnosis. Genotyping should be used only in cases where the diagnosis is equivocal and for purposes of genetic counseling.

  • To avoid iatrogenic Cushing's syndrome resulting from treatment of CAH, glucocorticoid dosage should be minimized. In patients with classic CAH, mineralcorticoids are recommended, as well as supplemental sodium in infants.

  • Routine use of experimental treatments to promote growth and delay puberty is not recommended. Adrenalectomy should be avoided.

  • For girls with severe virilization, early single-stage genital repair should be considered. This procedure should be performed only by surgeons experienced in this type of surgery.

  • An important consideration for patients with CAH is their quality of life. When appropriate, clinicians should consider referring patients with CAH to mental health professionals.

  • When patients with CAH undergo the transition to adulthood, clinicians should monitor for potential complications of CAH.

  • In pregnant women and in symptomatic patients with nonclassic CAH, medication should be used judiciously.

"People with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery (for girls), psychology and genetics," Dr. Speiser said. "Other than having to take daily medication, people with classic CAH can have a normal life."

Information for patients with CAH is available online in a new bilingual fact sheet from The Hormone Foundation, the patient education affiliate of The Endocrine Society.

The Intramural Research Program of the National Institutes of Health supported this study.

J Clin Endocrinol Metab. 2010;95:4133-4160. Abstract


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