Experts recommend universal screening of newborns for congenital adrenal hyperplasia

Chevy Chase, MD—Today, The Endocrine Society released a
new clinical practice guideline on the diagnosis and treatment of
congenital adrenal hyperplasia (CAH). The guideline features a
series of evidence-based clinical recommendations developed by an
expert task force.

The guideline, published in the September 2010 issue of the
Journal of Clinical Endocrinology & Metabolism
(JCEM), a publication of The Endocrine Society, is endorsed
by the American Academy of Pediatrics, 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.

CAH is a genetic disorder of the adrenal glands that affects
about one in 10,000 to 20,000 newborns, both male and female. The
adrenal glands make the steroid hormones cortisol, aldosterone and
androgens. In individuals with CAH, the adrenal glands produce an
imbalance of these hormones which can result in ambiguous genitalia
in newborn females, infertility and the development of masculine
features such as development of pubic hair, rapid growth in both
girls and boys before the expected age of puberty.

“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 of New York and
Hofstra University School of Medicine, 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 from the guideline include:

• Prenatal treatment of CAH should continue to be regarded as
  experimental. Such therapies should be pursued through protocols
  approved by Institutional Review Boards at centers capable of
  collecting outcomes data on a large number of patients so that
  risks and benefits of this treatment can be defined more
  precisely;
• 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;
• Clinicians should consider patients’ quality of life,
  consulting mental health professionals as appropriate;
• At the transition to adulthood, clinicians should monitor for
  potential complications of CAH; and
• Clinicians should exercise judicious use of medication during
  pregnancy and in symptomatic patients with nonclassic CAH.

“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,”
said Speiser. “Other than having to take daily medication, people
with classic CAH can have a normal life.”

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