A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM)

• Hamajima Takashi

  Department of Pediatrics, Seirei Hamamatsu Hospital Department of Endocrinology, Aichi Children's Health and Medical Center

• Ohki Shigeru

  Department of Pediatrics, Seirei Hamamatsu Hospital

• Imamine Hiroki

  Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences

• Mizuno Haruo

  Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences

• Homma Keiko

  Department of Laboratory Medicine, Keio University School of Medicine

• Hasegawa Tomonobu

  Department of Pediatrics, Keio University School of Medicine

抄録

The biochemical diagnosis of 21-hydroxylase deficiency (21-OHD) is difficult in preterm infants. To date, no marker for the biochemical diagnosis of 21-OHD has been found. Seventeen α-hydroxyprogesterone (17-OHP), is not useful because of interference by delta 5 steroids from the fetal adrenal cortex. A 5-d-old female infant, born at 31 wk of gestation, was suspected of having 21-OHD based on physical findings (mild clitoromegaly, pigmentation of the tongue and gingiva) as well as laboratory data (17-OHP >93.5 ng/ml by ELISA 7 prime extractive method in filter paper-dried blood spot and 718.3 ng/ml by RIA after high performance liquid chromatography extraction in serum; plasma ACTH 690 pg/ml; and serum testosterone 3,169 ng/dl). We examined her urinary steroid profiles by gas chromatography/mass spectrometry in selected ion monitoring (GCMS-SIM) at 8 d of age. The pregnanetriolone (Ptl) level was noticeably high (0.80 mg/g creatinine), which was strongly suggestive of 21-OHD. Gene analysis of CYP21A2 showed compound heterozygosity, one allele having a cluster mutation in exon 6 and the other having a large deletion including CYP21A2, confirming the diagnosis of 21-OHD. This case suggested that, in preterm infants, urinary Ptl by GCMS-SIM can be useful for the biochemical diagnosis of 21-OHD.<br>

収録刊行物

• Ｃｌｉｎｉｃａｌ　Ｐｅｄｉａｔｒｉｃ　Ｅｎｄｏｃｒｉｎｏｌｏｇｙ

  Ｃｌｉｎｉｃａｌ　Ｐｅｄｉａｔｒｉｃ　Ｅｎｄｏｃｒｉｎｏｌｏｇｙ 13 (1), 65-70, 2004

  日本小児内分泌学会

キーワード

• urinary steroid profiles
• pregnanetriolone (Ptl)
• 21-hydroxylase deficiency (21-OHD)
• preterm infants

詳細情報

• CRID: 1390282679461337728
• NII論文ID: 130004430938
• NII論文ID: 110002984506
• NII書誌ID: AA11006467
• DOI: 10.1297/cpe.13.65
• ISSN: 13477358
• ISSN: 09185739
• Web Site: http://www.jstage.jst.go.jp/article/cpe/13/1/13_1_65/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2005016467
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
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