-- Robert Preidt
TUESDAY, Feb. 26 (HealthDay News) -- Universal screening of
newborns improves the detection of a deadly genetic disorder in
both girls and boys, according to a new study.
The findings challenge the current belief about the detection of
the severe salt-wasting form of congenital adrenal hyperplasia
(CAH). It has commonly been thought that boys are at greater risk
for delayed diagnosis, the researchers explained in the Feb. 25
online edition of
The Lancet Diabetes and Endocrinology.
CAH is the most common adrenal disorder in children and affects
the production of the hormone cortisol in the adrenal glands. The
salt-wasting form of the disorder affects one in 10,000 to 15,000
newborns and can lead to neurological damage or intellectual
disability, and death if not diagnosed and treated early
Salt-wasting CAH is associated with overproduction of androgen
hormones. This can result in girls being born with abnormal
genitals while boys generally appear normal, the study authors
Most developed countries routinely screen newborns for
congenital adrenal hyperplasia, but that is not the case in all
countries, including Australia and the United Kingdom.
"Until now it was believed that newborn boys with the severe salt-wasting form of CAH were at much greater risk of delayed diagnosis and early death than girls, as girls are more often diagnosed shortly after birth because of ambiguous genitalia, whereas boys appear normal. However, our data show that both boys and girls are missed by physical examination -- even in a country such as Sweden with a developed health care system -- and that newborn screening improves survival in both sexes equally," senior researcher on the study, Anna Nordenstrom, of the Karolinska University Hospital Huddinge in Sweden, said in a journal news release.
For their study, the researchers analyzed all known cases of
congenital adrenal hyperplasia in Sweden between 1910 and 2011.
There was a significant increase in diagnosed cases in the 1960s
and 1970s, following the discovery of the first effective treatment
in 1950 and increased awareness of CAH and its symptoms. The number
of diagnosed cases increased again after the introduction of
newborn screening in 1986.
The author of an accompanying journal editorial, Bridget
Wilcken, of the Children's Hospital at Westmead and University of
Sydney in Australia, wrote that "there is little doubt that
screening for the disorder fulfills the essential criteria for
screening -- it is, after all, a potentially lethal disorder -- and
a 2010 study in the U.K. concluded that a case can be made for
screening. Certainly, pediatric endocrinologists from Australia
The U.S. National Library of Medicine has more about
congenital adrenal hyperplasia.
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