Navigation Links
Gene Disorder Screen Benefits Baby Boys, Girls Equally: Study

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 enough.

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 noted.

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 agree."

More information

The U.S. National Library of Medicine has more about congenital adrenal hyperplasia.

-- Robert Preidt

SOURCE: The Lancet Diabetes and Endocrinology, news release, Feb. 25, 2013

Copyright©2012 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Spiro PD Personal Spirometer Helps People Track Their Breathing Disorders As Generally Mild Winter Signals Early Allergy Season
2. UCLA study finds endocrine disorder is most common cause of elevated calcium levels
3. Pitt study examines cost-effectiveness of medicare drug plans in schizophrenia and bipolar disorder
4. Sleep Specialist Dr. Gerald Suh Differentiates Behavioral from Physiological Sleep Disorders
5. FDA Approves Bionic Eye to Help Against Rare Vision Disorder
6. Youths with autism spectrum disorder need help transitioning to adult health care
7. Can therapy dogs be beneficial for children with autism spectrum disorder?
8. Birth order linked to increased risk of diabetes, metabolic disorders
9. MNAP Sleep Center Welcomes Truckers as DOT Cracks Down on Sleep Disorders
10. Burning Tree Will Exhibit at the 34th Annual Behavioral Health and Addictive Disorder Conference in Clearwater, FL
11. New role for DNA methylation in subset of premature aging disorder patients
Post Your Comments:
Related Image:
Gene Disorder Screen Benefits Baby Boys, Girls Equally: Study
(Date:11/26/2015)... ... November 26, 2015 , ... Indosoft Inc., developer and distributor of the ... to improve system efficiency and reliability. , The new Q-Suite 6 platform is based ... system avoids locking itself into a specific piece of software for many key components ...
(Date:11/25/2015)... ... November 25, 2015 , ... Medical Solutions, one of the ... stellar workplace culture with the company’s Cincinnati office being named a finalist among ... was named a finalist in Cincinnati Business Courier’s 13th annual Greater Cincinnati Best ...
(Date:11/25/2015)... ... November 25, 2015 , ... For the first time, Vitalalert is donating ... Beat ” campaign. The partnership between the two groups began in 2014 with Vitalalert ... cause. , MAP International was founded in 1954 and is an international Christian-based health ...
(Date:11/25/2015)... ... November 25, 2015 , ... Wimbledon Health ... launches new Wimbledon Athletics Facebook page to educate the public, parents ... cardiac abnormalities. About 2,000 people under the age of 25 die from sudden ...
(Date:11/25/2015)... ... November 25, 2015 , ... Beddit® has launched a ... tracking systems. The new app features a more intuitive SleepScore™ that rates sleep quality ... you slept. The SleepScore is created by a proprietary algorithm. Beddit analyzes the data ...
Breaking Medicine News(10 mins):
(Date:11/25/2015)... Nov. 25, 2015 On Tuesday, November ... bellwether trial against Wright Medical Technology, Inc. for ... Conserve metal-on-metal hip implant device, awarded $11 million ... two week trial and three days of deliberations, ... device was defectively designed and unreasonably dangerous, and ...
(Date:11/25/2015)... Allergan plc (NYSE: AGN ) today announced that it ... State Attorney General,s Office to end the litigation ... with the Attorney General over the decision of Forest Laboratories, ... the now generic version of memantine immediate release tablets.  Under ... its counterclaims against New York , and ...
(Date:11/25/2015)... DUBLIN , Nov. 25, 2015 Endo International ... Rajiv De Silva , President and CEO, will discuss ... Healthcare Conference in New York on ... . Click on Investor Relations, and then the ... prior to the presentation,s start time to visit the site ...
Breaking Medicine Technology: