Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

¹ From the Department of Pediatrics, University of Illinois, College of Medicine, Chicago; Royal Infirmary and Stobill General Hospital, Glasgow, Scotland; Department of Human Services, State Laboratory of Public Health, Seattle; Centre de Depistage Neonatal, Hôpital Debrousse, Lyon, France; National Testing Center, Auckland, New Zealand; Illinois Department of Public Health, Chicago; Hokkaido University School of Medicine, Sapporo, Japan; and Department of Pediatrics, Kanagawa Children's Medical Center, Yokohama, Japan

The need for a reliable screening test for classical congenital adrenal hyperplasia prompted development of newborn screening programs. Worldwide incidence of classical congenital adrenal hyperplasia in this report was taken from newborn screening programs in France, Italy, Japan, New Zealand, Scotland, and the United States. Two populations in which the occurrence of congenital adrenal hyperplasia among live births has been reported with greater than usual frequency are the Yupik Eskimos of southwestern Alaska (1:282) and the people of La Reunion, France (1:2,141). Aside from these populations, 1,093,310 newborns were screened between 1980 and 1988, of whom 77 had congenital adrenal hyperplasia. Thus, world-wide incidence of this disorder was estimated at 1:14,199 live births for homozygous patients, 1:60 for heterozygous subjects, with a gene frequency of 0.0083. Incidence of congenital adrenal hyperplasia among whites was estimated to be 1:11,909 (41 : 488,279) for homozygous patients, 1:55 for heterozygous subjects with a gene frequency of 0.0091. Incidence for the salt-wasting form of congenital adrenal hyperplasia was 1:18,850 (58: 1,093,310) compared with 1:57,543 (19:1,093,310) for congenital adrenal hyperplasia in the simple virilizing form. Thus, salt-wasting congenital adrenal hyperplasia was three times more common than simple virilizing congenital adrenal hyperplasia. Estimated incidence of congenital adrenal hyperplasia in white populations in Italy and France (1:10,866) was higher than in Scotland (1:17,098), New Zealand (1:14,500). The incidence in an Asian population (Japan) (1:15,800) did not differ significantly from that of the white population. In four of five populations, overall incidence was higher than previously reported, as was the frequency of the salt-wasting form (75% v 50% to 66%), suggesting improved case detection by newborn screening. The direct benefit of congenital adrenal hyperplasia screening was the prevention of adrenal crisis and its sequelae, the reversal of incorrect sex assignment, and early diagnosis of girls having congenital adrenal hyperplasia. Newborn screening for this disorder was shown to be cost effective when its cost is compared with the lifetime tax contribution of a productive citizen.

Key Words: congenital adrenal hyperplasia • 21-hydroxylase deficiency

Submitted on November 9, 1987
Accepted on January 25, 1988

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