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)

Abstract

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
Volume13
Issue number1
DOIs
Publication statusPublished - 2004

Fingerprint

Premature Infants
Gas Chromatography-Mass Spectrometry
Ions
Steroids
17-alpha-Hydroxyprogesterone
Adrenal Cortex
Pigmentation
Gingiva
Serum
Tongue
Adrenocorticotropic Hormone
Testosterone
Exons
Creatinine
Biomarkers
Enzyme-Linked Immunosorbent Assay
Alleles
High Pressure Liquid Chromatography
Pregnancy
Mutation

Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "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)",
abstract = "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",
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T2 - Implications of the biochemical diagnosis with urinary pregnanetriolone by gas chromatography/mass spectrometry in selected ion monitoring (GCMS-SIM)

AU - Hamajima, Takashi

AU - Ohki, Shigeru

AU - Imamine, Hiroki

AU - Mizuno, Haruo

AU - Homma, Keiko

AU - Hasegawa, Tomonobu

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AB - 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

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