| Journal of Pediatrics. 147(4):493-498, October 2005. | Authors: VARNESS, TODD S. MD, MPH; ALLEN, DAVID B. MD; HOFFMAN, GARY L. BS |
Department of Pediatrics, University of Wisconsin Children’s Hospital, Madison, Wisconsin; Wisconsin Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, Madison, Wisconsin. | |
| Objectives: To characterize Wisconsin-born infants with 21-hydroxylase deficiency-congenital adrenal hyperplasia (21-OH-D-CAH) who were not identified by the newborn screening for 21-OH-D-CAH, and to examine male and female screening 17-hydroxyprogesterone (17-OHP) levels.
Study design: Information on infants with false-negative results was gathered. Results of the Wisconsin newborn screening for 21-OH-D-CAH from January 1, 2000, to June 30, 2003, were analyzed to detect possible differences between male (n = 119,842) and female (n = 114,951) infants.
Results: Six of 7 female infants with false-negative results had genital masculinization, and 4 of 8 infants with false-negative results had laboratory evidence of salt-wasting. None died, had a salt-wasting crisis, or was assigned the wrong sex. A significant difference in the mean 17-OHP levels between male (17.5 ng/mL) and female (15.4 ng/mL) infants (P < .0001) was detected. The sensitivity of newborn screening for female infants was 60%, compared with 80% for male infants.
Conclusions: Male and female infants have significantly different mean 17-OHP levels on newborn screening, and female infants comprise most of the infants with false-negative results. Although health professionals should not assume that newborn screening for 21-OH-D-CAH is a means of identifying all affected infants, the primary goals of newborn screening for CAH (prevention of salt-wasting crises and sex misassignment) are fulfilled. | |