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December 1999

Effect of Newborn Screening for Congenital Adrenal Hyperplasia

Author Affiliations

From the Department of Pediatrics, School of Medicine (Dr P. G. Brosnan), and the Department of Systems and Technology, School of Nursing (Dr C. A. Brosnan), The University of Texas–Houston Health Science Center; the Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock (Dr Kemp); Department of Pediatrics, Integris Baptist Medical Center, Oklahoma City, Okla (Dr Domek); the Warren Clinic Diabetes Center and the University of Oklahoma Health Sciences Center, Tulsa (Dr Jelley); the Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City (Dr Blackett); and the Department of Medical Education, Driscoll Children's Hospital, Corpus Christi, Tex (Dr Riley).

Arch Pediatr Adolesc Med. 1999;153(12):1272-1278. doi:10.1001/archpedi.153.12.1272

Objective  To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrenal hyperplasia (CAH).

Design  A retrospective cohort study.

Setting  Arkansas, Oklahoma, and Texas.

Patients  An unscreened population in Arkansas and Oklahoma (n = 400 118) was compared with a screened population in Texas (n = 1 613 378) during a 5-year period. Simultaneous data were collected on the incidence of diagnosis and associated morbidity in patients with CAH.

Main Outcome Measures  Diagnosis of CAH, age (in days) at diagnosis, and frequency and length of initial hospitalization.

Results  The incidence of diagnosis of classic CAH per 100,000 newborns in the unscreened cohort (5.75) and in the screened cohort (6.26) was similar (relative risk, 0.92; 95% confidence interval, 0.58-1.44). The unscreened group had 0.73 fewer male newborns with salt-wasting CAH diagnosed per 100,000 newborns (relative risk, 0.73; 95% confidence interval, 0.35-1.56). The median age at diagnosis was 26 days for male newborns with salt-wasting CAH in the unscreened cohort vs 12 days in the screened cohort (z = 2.49; P = .01). Male newborns with simple-virilizing CAH and newborns with nonclassic CAH were detected only in the screened cohort.

Conclusions  There was not a statistically significant (P = .73) increase in the diagnosis of salt-wasting CAH in the screened cohort. Male newborns benefited as a result of significantly (P = .01) earlier diagnosis, reduced morbidity, and shorter lengths of hospitalization. Large collaborative studies or meta-analyses are needed to determine the life-saving benefits of screening.