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)

Takashi Hamajima, Shigeru Ohki, Hiroki Imamine, Haruo Mizuno, Keiko Homma, Tomonobu Hasegawa

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3 Citations (Scopus)


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. Copyright

Original languageEnglish
Pages (from-to)65-70
Number of pages6
Journalclinical pediatric endocrinology
Issue number1
Publication statusPublished - 2004 Dec 1



  • 21-hydroxylase deficiency (21-OHD)
  • Pregnanetriolone (Ptl)
  • Preterm infants
  • Urinary steroid profiles

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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