Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS.

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Tác giả: Anita Boelen, Sabine E Hannema, Annemieke C Heijboer, Charlotte A Heinen, Jacquelien J Hillebrand, Jolanda C Naafs, Anouk Olthof, Paul A S van Trotsenburg, Nitash Zwaveling-Soonawala

Ngôn ngữ: eng

Ký hiệu phân loại: 781.237 *Intervals

Thông tin xuất bản: Germany : Clinical chemistry and laboratory medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 594018

OBJECTIVES: Congenital adrenal hyperplasia (CAH) is a rare, inherited disorder of adrenal steroid synthesis. In many countries it is part of the neonatal screening program enabling early diagnosis and treatment. In case of an abnormal neonatal screening result or when other differences of sexual development (DSD) are suspected, measurement of serum steroid hormones using liquid chromatography coupled to mass spectrometry (LC-MS/MS) is needed for further diagnosis. However, reliable age- and sex-specific reference intervals (RIs) for serum steroid hormones during the neonatal period are missing. We therefore aimed to establish LC-MS/MS based RIs for serum steroid hormones in neonates. METHODS: Serum was obtained from healthy term neonates at two time points: 130 samples at day 3-8 ( RESULTS: RIs (in nmol/L) were established for CONCLUSIONS: We established LC-MS/MS based RIs for cortisol, cortisone, corticosterone, 11-deoxycortisol, 21-deoxycortisol, 11-deoxycorticosterone, testosterone, androstenedione, and 17-OHP in neonates in the first and second week of life.
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