Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience.

ABSTRACT

A screening program for congenital adrenal hyperplasia (CAH) in Sapporo began in 1982, 7 years prior to the introduction of the national program. Since its inception, testing has involved the detection of 17-hydroxyprogesterone (17-OHP) in dried blood samples, using ELISA. Up to the end of March 1998, of 298,731 newborn screened, second samples were requested in 1,723 cases (0.6%). This number included 789 newborns who weighed less than 2,000 gm at birth. A total of 14 cases were diagnosed with 21-hydroxylase deficiency (21-OHD). "Salt-wasting type (SW)" outnumbered "simple virilizing type (SV)" by 113. The ratio of male to female was a converse. but unrelated, 311. Our study from 1982-1997 revealed that the incidence of 21-OHD in Sapporo City was 121.338, markedly similar to the worldwide incidence of 115,000. In order to improve the program, other type of analysis are also currently in use and under evaluation. These include highly sensitive HPLC analysis for 17-OHP and molecular analysis to identify some mutations associated with the 21-OHD gene (CYP21). These methodologies are very useful for the confirmation of information acquired from dried blood specimens.