title: Neonatal screening for congenital adrenal hyperplasia in Japan.
abstract: A nationwide screening test for congenital adrenal hyperplasia (CAH) was first initiated in Japan in 1989, over 20 years ago, and it is now 30 years since a pilot study was initiated in Sapporo in 1982. The incidence of 21-hydroxylase deficiency in Japan is about 1/18,000 persons, which is similar to that in other countries. The effectiveness of early detection and treatment of CAH in Japan has been demonstrated by cost-benefit analyses. However, the false-positive rate of CAH screening in preterm infants remains high compared to screening tests for term infants. To improve the positive predictive value, we have employed 21-hydroxylase gene (CYP21A2) analysis on dried blood spots and high performance liquid chromatography (HPLC) to measure 17-hydroxyprogesterone, and currently use tandem mass spectrometry (LC-MS/MS) as a screening technique. We suggest that LC-MS/MS should be used in the future to improve the accuracy of CAH screening in Japan.
authors: Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Kita-Ku, Sapporo 060-8638, Japan. tajeari@med.hokudai.ac.jp
authors: Toshihiro
authors: T
authors: Tajima
authors: Kaori
authors: K
authors: Fujikura
authors: Masaru
authors: M
authors: Fukushi
authors: Tomoyuki
authors: T
authors: Hotsubo
authors: Yu
authors: Y
authors: Mitsuhashi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D044466:Asian People; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D015997:Neonatal Screening / Q000379:methods* / Q000592:standards*; D011237:Predictive Value of Tests