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

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 11:3. The ratio of male to female was a converse. but unrelated, 3:11. Our study from 1982-1997 revealed that the incidence of 21-OHD in Sapporo City was 1:21.338, markedly similar to the worldwide incidence of 1:15,000. 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.

Advances in insulin therapy for insulin-dependent diabetic children.

During the last two decades new forms of insulin and a better understanding of the physiological insulin secretion profile have led to great changes in insulin therapy. New insulin regimens mimicking the normal insulin secretory pattern, called intensive insulin therapy, and new insulin-delivery systems have been introduced. Self-monitoring of blood glucose levels and the use of glycosylated hemoglobin determination for objective evaluation of long-term control have made the achievement of near normoglycemia a practical goal for most patients taking insulin. 1. New forms of insulin: Beef and pork insulin were replaced by monocomponent pork insulin and now monocomponent human insulin is most popularly used. 2. Intensive insulin therapy: Intensified conventional insulin therapy, that is a multiple injection regimen and a twice a-day insulin regimen using a mixture of intermediate- and short-acting insulins has been commonly accepted. New devices such as pen-type injectors and jet-injectors have also been introduced for simplifying the multiple injection regimen. Continuous subcutaneous insulin injection (CSII) has also been adopted by adolescents and young adults.