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Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates

Department of Laboratory Medicine (K.H., E.T., K.W.), and Department of Pediatrics (T.Has., M.A., T.Ta., N.M.), Keio University School of Medicine, Tokyo 160-8582, Japan; Tokyo Metropolitan Kiyose Children’s Hospital (M.A.), Tokyo 204-0022, Japan; Department of Pediatrics (T.To.), Tokyo Medical and Dental University, Tokyo 113-8519, Japan; Department of Pediatrics (K.J.), Division of Medical Intelligence and Informatics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima 734-8551, Japan; Department of Pediatrics (T.O.), The Jikei University School of Medicine, Tokyo 105-8471, Japan; Department of Endocrinology (T.Ham.), Aichi Children’s Health and Medical Center, Aichi 474-0031, Japan; Division of Neonatal Intensive Care (Y.T.), Center of Perinatal Medicine, Nara Medical University Hospital, Nara 634-8522, Japan; and National Center for Child Health and Development (N.M.), Tokyo 157-8535, Japan

Address all correspondence and requests for reprints to: Keiko Homma, Department of Laboratory Medicine, Keio University School of Medicine, 35 Shinano-machi, Shinjuku-ku, Tokyo 160-8582, Japan. E-mail: keikoh{at}happy.email.ne.jp.

Elevated blood 17-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 21OHD 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 21OHD 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, 5ß-tetrahydrocortisone (ßTHE), and 5-tetrahydrocortisone (THE).

Ptl and Ptl/(ßTHE+THE) 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, 0.06 mg/g creatinine in non-21OHD preterm, and 0.07 mg/g creatinine in controls). PT and PT/(ßTHE+THE) showed significant overlap between 21OHD and non-21OHD.

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.

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