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Neonatal screening for congenital adrenal hyperplasia in Japan

Toshihiro Tajima1, Kaori Fujikura, Masaru Fukushi

  • 1Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Kita-Ku, Sapporo 060-8638, Japan. tajeari@med.hokudai.ac.jp

Pediatric Endocrinology Reviews : PER
|January 22, 2013
PubMed

Insights

Congenital adrenal hyperplasia (CAH) screening in Japan uses advanced methods like LC-MS/MS to improve accuracy. This technology enhances early detection and treatment effectiveness for newborns, particularly preterm infants.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal screening

Background:

  • Congenital adrenal hyperplasia (CAH) screening has been conducted nationwide in Japan since 1989.
  • The incidence of 21-hydroxylase deficiency in Japan is approximately 1/18,000, comparable to global rates.
  • Cost-benefit analyses confirm the effectiveness of early CAH detection and treatment in Japan.

Purpose of the Study:

  • To address the high false-positive rates in CAH screening for preterm infants.
  • To enhance the positive predictive value of newborn screening for CAH.
  • To evaluate and suggest improved screening methodologies for CAH in Japan.

Main Methods:

  • Utilized 21-hydroxylase gene (CYP21A2) analysis on dried blood spots.
  • Employed high-performance liquid chromatography (HPLC) for 17-hydroxyprogesterone measurement.
  • Implemented tandem mass spectrometry (LC-MS/MS) as a current screening technique.

Main Results:

  • The study highlights the ongoing efforts to refine CAH screening protocols.
  • LC-MS/MS has been adopted to improve the accuracy of screening.
  • The incidence of CAH in Japan is consistent with international data.

Conclusions:

  • Tandem mass spectrometry (LC-MS/MS) is recommended for future CAH screening in Japan.
  • Improving screening accuracy is crucial for effective early detection and management of CAH.
  • Continued advancements in screening technology are vital for neonatal health outcomes.

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