Task force recommends against prenatal treatment of congenital adrenal hyperplasia

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

A task force convened by the Endocrine Society has created a new clinical practice guideline for congenital adrenal hyperplasia that recommends universal newborn screening for severe steroid 21-hydroxylase deficiency, followed by confirmatory tests.

Among other topics, the guideline, which is published in the Journal of Clinical Endocrinology & Metabolism, encompasses the adult management of congenital adrenal hyperplasia, according to Phyllis W. Speiser, MD, director of Pediatric Endocrinology for the Cohen Children’s Medical Center of the North Shore-Long Island Jewish Health System.

“Individuals are living productive lives into adult years with this childhood disease, and it is important for adult endocrinologists to know how to treat these patients,” Speiser told Endocrine Today. “This is a potentially fatal disease that is mostly diagnosed with newborn screening. These people require lifetime treatment.”

As patients with the disease mature, they require the services of endocrinologists and other specialists. Females especially need extra care, as they have genital problems and often have impaired fertility and a reduced ability to bear children, Speiser said.

Recommendations

Speiser, who is chair of the task force, said one of the most significant recommendations is that prenatal treatment of congenital adrenal hyperplasia remains an experimental procedure and only takes place under research protocols approved by institutional review boards. This includes the administration of dexamethasone to pregnant women at high risk for a child with the condition to reduce the chance of ambiguous genitalia in girls.

“The long-term implications of giving dexamethasone to pregnant women are not fully understood,” Speiser said. “The benefits may be clear, but there is still a lot to be learned about the possible adverse effects. Dexamethasone is not going to cure the disease; it merely serves as palliation for one aspect of the disease. There are alternative ways to treat this condition.”

The task force also recommended against giving drugs that are not approved for the purpose of enhancing the height in children with congenital adrenal hyperplasia, as this practice is not supported by published evidence and the potential for long-term adverse effects is unknown.

“Standard therapy should be monitored and the doses adjusted within a certain range,” Speiser said. “The children could achieve a height that is in the short-normal range for the population.”

Other recommendations are as follows:

The mainstay of diagnosis is clinical and hormonal data, reserving genotyping for equivocal cases and genetic counseling; to avoid iatrogenic Cushing’s syndrome, glucocorticoid dosage should be minimized;
Mineralcorticoids are recommended in patients with classic congenital adrenal hyperplasia;
Surgery for single-stage genital repair should be performed by experienced surgeons in severely virilized girls;
Monitor for potential complications as patient transitions to adulthood; and
Use medication judiciously during pregnancy and in symptomatic patients with nonclassic congenital adrenal hyperplasia.

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