Universal screening of newborns boosts the detection of a deadly genetic disorder in both girls and boys, according to a fresh study.
The findings challenge the existing belief about the detection of the serious salt-wasting form of congenital adrenal hyperplasia (CAH). It has typically been thought that boys are at higher risk for delayed diagnosis, the experts 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 creation of the hormone cortisol in the adrenal glands. The salt-wasting type of the disorder affects one in 10,000 to 15,000 newborns and can lead to neurological damage or intellectual disability, and loss of life if not diagnosed and treated early plenty of.
Salt-wasting CAH is connected with overproduction of androgen hormones. This can result in girls being born with unusual genitals while males generally appear normal, the study authors noted.
Most developed countries routinely display newborns for congenital adrenal hyperplasia, but that is not the case in all countries, including Australia and the uk.
"Until now it was believed that newborn males with the severe salt-wasting form of CAH were at much greater risk of delayed diagnosis and early death than girls, as women are more regularly diagnosed shortly after birth due to ambiguous genitalia, whereas boys appear normal. However, our data present that both boys and girls are missed by physical exam -- even in a nation such as for example Sweden with a developed health care program -- and that newborn screening improves survival in both sexes similarly," senior researcher on the analysis, Anna Nordenstrom, of the Karolinska University Hospital Huddinge in Sweden, stated in a journal news release.
Because of their study, the experts analyzed all known cases of congenital adrenal hyperplasia in Sweden between 1910 and 2011. There is a significant upsurge in diagnosed instances in the 1960s and 1970s, following the discovery of the 1st effective treatment in 1950 and increased knowing of CAH and its own symptoms. The number of diagnosed cases increased again following the introduction of newborn screening in 1986.
The writer 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 fundamental criteria for screening -- it is, after all, a potentially lethal disorder -- and a 2010 study in the U.K. figured a case could be designed for screening. Certainly, pediatric endocrinologists from Australia agree."
