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February 12, 2007

Commentary on the Article by Grosse and Vliet
Hormone Research, Vol. 67, No.6, 2007
Kelly R. Leight
CARES Foundation, Union, NJ, USA

I strongly encourage further consideration of the conclusions made by Grosse and Vliet in their paper entitled How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia? as printed in Hormone Research Vol. 67, No. 6, 2007. While these researchers should be commended for examining the effectiveness of Congenital Adrenal Hyperplasia (CAH) infant testing, their conclusion that infant death due to adrenal crisis in salt-wasting CAH in first-world countries would be 4% or less without screening for CAH is highly questionable as well as dangerously narrow in its scope.

CARES Foundation, Inc. is a non-profit organization that provides support to individuals and families affected by Congenital Adrenal Hyperplasia (CAH), and I serve as its Executive Director. I am also the parent of a child with a form of CAH. I have seen the devastation that can occur when we fail to screen and families suffer unnecessary loss due to a lack of proper diagnosis.

Grosse and Vliet's conclusions fail to consider autopsy rates and misdiagnoses as well as ignore the plight of children living in economies that are neither "contemporary" nor "advanced." Any analysis must take into account the following:

• It is difficult to calculate how many deaths could have been prevented by newborn screening for CAH unless there is a 100% autopsy rate for infant deaths. Due to the sudden onset of adrenal crisis, generally within the first two weeks of life, and various obstacles to obtaining a rapid diagnosis, undetected CAH-affected children who die often are classified as having died for some reason unrelated to CAH. Without performing an autopsy on every child that dies, we cannot know the true rate of death attributable to CAH.
• The symptoms of adrenal crisis easily can be mistaken as signs of complications of prematurity, gastrological or renal difficulties, failure to thrive and any number of other conditions. Babies are misdiagnosed, therefore inappropriately treated, and may die without CAH ever having been identified as the true cause of death.
• National Newborn Screening and Genetics Resource Center records for 2006 estimate 3.3 million babies had access to mandated CAH newborn screening last year. Genetic studies have shown that classical CAH occurs in 1 in 15,000 births, at least 220 children should have been diagnosed with CAH. Only 97 were detected through newborn screening and another 9 in clinic. Over 56% of presumed cases of CAH went undetected.
• Finally,the World Bank estimates that of the six billion people living in the world today, one billion receive 80 percent of global income, and more than one billion barely survive on less than a dollar a day. The plight of a huge sector of the world's population is ignored by this study.

Certainly great strides have been made in the diagnosis and treatment of CAH around the world. However, it is clear we still have a long way to go and only though more comprehensive research will we really come to know the rate of mortaility due to CAH.

Letter as printed in Hormone Research Online on March 28, 2007, can be found at: Horm Res 2007;68:195-195 (DOI: 10.1159/000101351)