Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

Keiko Homma, Tomonobu Hasegawa, Eiko Takeshita, Kiyoaki Watanabe, Makoto Anzo, Takio Toyoura, Kazuhiko Jinno, Toya Ohashi, Takashi Hamajima, Yukihiro Takahashi, Takao Takahashi, Nobutake Matsuo

Research output: Contribution to journalArticle

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Abstract

Elevated blood 17α-hydroxyprogesterone (17OHP) level, although widely used for the screening of classical 21-hydroxylase deficiency (21OHD) in neonates, has frequently been found in some neonates without classical 21OHD, particularly preterm neonates. We studied the diagnostic value of the metabolite of 21-deoxycortisol (pregnanetriolone, Ptl) and the metabolite of 17OHP (pregnanetriol, PT) in identifying 21OHB in term and preterm neonates with elevated blood 17OHP on the newborn screening. Spot urine samples from 59 classical 21OHD neonates (50 term, 9 preterm), 83 neonates without 21OHB having transiently elevated blood 17OHP (non-21OHD) (49 term, 34 preterm), and 62 control term neonates were studied using gas chromatography/mass spectrometry in selected ion monitoring analysis for Ptl, PT, 5β-tetrahydrocortisone (βTHE), and 5α-tetrahydrocortisone (αTHE). Ptl and Ptl/(βTHE+αTHE) showed no overlap between 21OHD and non-21OHD, and 21OHD and controls, respectively (Ptl was 0.46-124 mg/g creatinine in 21OHD term, 0.80-26.9 mg/g creatinine in 21OHD preterm, ≦0.08 mg/g creatinine in non-21OHD term, ≦0.08 mg/g creatinine in non-21OHD preterm, and ≦0.07 mg/g creatinine in controls). PT and PT/ (βTHE+αTHE) showed significant overlap between 21OHD and non-21OHB. The above data indicate that spot urine Ptl is a highly specific marker of 21OHD with a cutoff value of 0.1 mg/g creatinine, yielding an unambiguous separation between 21OHD and non-21OHD in term and preterm neonates.

Original languageEnglish
Pages (from-to)6087-6091
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume89
Issue number12
DOIs
Publication statusPublished - 2004 Dec

Fingerprint

Tetrahydrocortisone
Steroid 21-Hydroxylase
Creatinine
Pregnanetriol
Urine
Blood
Metabolites
Screening
17-alpha-Hydroxyprogesterone
Gas chromatography
Gas Chromatography-Mass Spectrometry
Mass spectrometry
pregnanetriolone
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Ions
Monitoring

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. / Homma, Keiko; Hasegawa, Tomonobu; Takeshita, Eiko; Watanabe, Kiyoaki; Anzo, Makoto; Toyoura, Takio; Jinno, Kazuhiko; Ohashi, Toya; Hamajima, Takashi; Takahashi, Yukihiro; Takahashi, Takao; Matsuo, Nobutake.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 89, No. 12, 12.2004, p. 6087-6091.

Research output: Contribution to journalArticle

Homma, Keiko ; Hasegawa, Tomonobu ; Takeshita, Eiko ; Watanabe, Kiyoaki ; Anzo, Makoto ; Toyoura, Takio ; Jinno, Kazuhiko ; Ohashi, Toya ; Hamajima, Takashi ; Takahashi, Yukihiro ; Takahashi, Takao ; Matsuo, Nobutake. / Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. In: Journal of Clinical Endocrinology and Metabolism. 2004 ; Vol. 89, No. 12. pp. 6087-6091.
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AU - Watanabe, Kiyoaki

AU - Anzo, Makoto

AU - Toyoura, Takio

AU - Jinno, Kazuhiko

AU - Ohashi, Toya

AU - Hamajima, Takashi

AU - Takahashi, Yukihiro

AU - Takahashi, Takao

AU - Matsuo, Nobutake

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