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Best Practices for Congenital Adrenal Hyperplasia Updated

FRIDAY, Oct. 5, 2018 -- Best practices have been updated for screening and managing congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. The updated Endocrine Society clinical practice guideline was published online Sept. 27 in the Journal of Clinical Endocrinology & Metabolism.

Phyllis W. Speiser, M.D., from the Cohen Children's Medical Center of New York City, and colleagues updated best practice guidelines for the clinical management of CAH based on published evidence and expert opinion.

The authors recommend that all newborn screening programs include screening for CAH due to 21-hydroxylase deficiency. Infants who screen positive should be referred to pediatric endocrinologists. Prenatal therapy should be regarded as experimental, and specific protocols are not recommended outside of formally approved clinical trials. Parents of pediatric patients should be advised about surgical options, including delaying surgery until the child is older. Surgery should only be performed in centers with teams who have experience with CAH. Extensive discussions about risks and benefits, shared decision making, and review of complications should take place before surgery. All surgical decisions for treatment of minors should remain the prerogative of families in joint decision-making with experienced surgical consultants. For adolescent patients, transition to adult care should begin several years prior to discharge from pediatric endocrinology.

"Our new guideline stresses the importance of shared decision-making between health care professionals, patients, and their families when it comes to treatment and the need for ongoing care," Speiser said in a statement.

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Posted: October 2018

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