Neonatal mass screening for 21-hydroxylase deficiency

• Tajima Toshihiro

  Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan Present: Jichi Children’s Medical Center Tochigi, Shimotsuke, Japan

• Fukushi Masaru

  Sapporo IDL, Sapporo, Japan

抄録

Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life with life-threatening adrenal insufficiency, leading to death. To prevent death by adrenal insufficiency in neonates with the SW form and wrong gender assignment of 46,XX female patients with SW and SV, neonatal mass screening of 21-OHD is performed in several countries including Japan. However, the positive predictive value (PPV) remains low, especially in preterm infants. To reduce the false positive rate and increase the PPV, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS) as a second-tier test may be useful. In this review, the current knowledge on neonatal mass screening of 21-OHD is summarized.

収録刊行物

• Ｃｌｉｎｉｃａｌ　Ｐｅｄｉａｔｒｉｃ　Ｅｎｄｏｃｒｉｎｏｌｏｇｙ

  Ｃｌｉｎｉｃａｌ　Ｐｅｄｉａｔｒｉｃ　Ｅｎｄｏｃｒｉｎｏｌｏｇｙ 25 (1), 1-8, 2016

  日本小児内分泌学会

キーワード

• 21-hydroxylase deficiency
• neonatal screening
• liquid chromatography followed by tandem mass spectrometry (LC-MS/MS)

詳細情報

• CRID: 1390001204484964992
• NII論文ID: 130005122126
• DOI: 10.1297/cpe.25.1
• ISSN: 13477358
• ISSN: 09185739
• Web Site: https://www.jstage.jst.go.jp/article/cpe/25/1/25_2015-0012/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2016261953
• 本文言語コード: en
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