April 29, 2014
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SRY testing shows sensitivity in avoiding prenatal dexamethasone treatment in males

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The SRY test appears to be a reliable means of avoiding unnecessary prenatal dexamethasone in males, but improvements in its execution are needed, according to recent findings.

Maintenance of prenatal dexamethasone is crucial in preventing future traumatic surgery for girls with congenital adrenal hyperplasia (CAH).

In the retrospective study, researchers evaluated 258 fetuses (124 females and 134 males) in pregnancies presenting for care at referent medical centers with an institutional practice between 2003 and 2011.

Of the fetuses evaluated, 255 were found to be at risk for 21-hydroxylase deficiency CAH and three were at risk for 11-hydroxylase deficiency CAH.
To avoid prenatal treatment of male fetuses with dexamethasone, the researchers recommended a maternal blood test to determine fetal gender (SRY test). Dexamethasone is optimally given before the sixth week of gestation to prevent genital virilization in girls with CAH.

Pregnant women were advised of the benefits and risks of prenatal dexamethasone treatment and the uncertainty of treatment outcomes. Of the 124 female fetuses, 112 underwent prenatal dexamethasone treatment; and of 134 males, 42 underwent dexamethasone treatment.

The researchers found that the SRY test was sensitive from 4 weeks and 5 days of gestation and prevented prenatal dexamethasone in 68% of males. This percentage increased during the study period. Treatment with dexamethasone was continued until prenatal diagnosis in non-CAH females. In CAH girls, virilization was prevented in 12 fetuses treated at no later than 6 weeks’ gestation and was minimized in three girls treated between 6 and 7 weeks’ gestation. There was good maternal tolerance of dexamethasone, and no malformations were seen in the 154 children treated in utero.

According to the researchers, these findings suggest that the SRY test is useful in preventing unnecessary dexamethasone treatment in males; the researchers also emphasized the need to optimize prenatal dexamethasone treatment.

“The SRY test is accurate after 4.5 weeks’ gestation, and [dexamethasone] must be initiated at the latest at 6 weeks’ gestation for efficacy in preventing posterior labial fusion and clitoromegaly in CAH females,” the researchers wrote. “[Dexamethasone] could be influenced by different factors, such as maternal metabolism and fetal sensitivity, and parents should be informed about these limits.”

Disclosure: The researchers report no relevant financial disclosures.