Newborn screening for adrenal hyperplasia recommended

September 23, 2010

Every newborn child should be screened for congenital adrenal hyperplasia (CAH) and positive results should be followed by testing, according to a new clinical practice guideline from the Endocrine Society on the diagnosis and treatment of the condition.

Every newborn child should be screened for congenital adrenal hyperplasia (CAH) and positive results should be followed by testing, according to a new clinical practice guideline from the Endocrine Society on the diagnosis and treatment of the condition.

The guideline was recently published in the Journal of Clinical Endocrinology & Metabolism (2010; 95:4133-60).

"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 Phyllis Speiser, MD, of Cohen Children’s Medical Center, New Hyde Park, NY, and chair of the task force that developed the guideline. "We recommend that every newborn be screened for CAH and that positive results be followed up with confirmatory tests."

Other recommendations in the guideline include the following:

  • Prenatal treatment of CAH should continue to be regarded as experimental.
  • Diagnosis should rest on clinical and hormone data, while genotyping should be reserved for equivocal cases and genetic counseling.
  • Regarding treatment, glucocorticoid dosage should be minimized to avoid iatrogenic Cushing’s syndrome. Mineralcorticoids and, in infants, supplemental sodium are recommended in classic CAH patients.
  • Clinicians should avoid the routine use of experimental therapies to promote growth and delay puberty, and patients should avoid adrenalectomy.
  • Early single-stage genital repair should be considered for severely virilized girls and should be performed only by surgeons experienced in this type of procedure.

Among the organizations endorsing the guidelines are the American Academy of Pediatrics and the Society for Pediatric Urology.