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Arch Pediatr Adolesc Med. 1999 Dec;153(12):1272-8.

Effect of newborn screening for congenital adrenal hyperplasia.

Author information

1
Department of Pediatrics, School of Medicine, The University of Texas-Houston Health Science Center, 77030, USA. pbrosnan@ped1.med.uth.tmc.edu

Abstract

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 = 400118) was compared with a screened population in Texas (n = 1613378) 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 100000 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 100000 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.

PMID:
10591305
DOI:
10.1001/archpedi.153.12.1272
[Indexed for MEDLINE]

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