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Updated: May 4, 2026
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS
Anouk Olthof1,2, Jolanda C Naafs2,3, Nitash Zwaveling-Soonawala2,3
1Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, Location University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Insights
This study establishes crucial reference intervals for neonatal steroid hormone levels, vital for diagnosing congenital adrenal hyperplasia (CAH) and other conditions. These findings improve early detection and management in newborns.
Area of Science:
- Endocrinology
- Neonatal Medicine
- Biochemistry
Background:
- Congenital adrenal hyperplasia (CAH) is a rare inherited disorder affecting adrenal steroid synthesis.
- Neonatal screening programs facilitate early CAH diagnosis and treatment.
- Accurate diagnosis of CAH and other differences in sexual development (DSD) in neonates requires precise serum steroid hormone measurements.
Purpose of the Study:
- To establish reliable, age- and sex-specific reference intervals (RIs) for serum steroid hormones in neonates.
- To utilize liquid chromatography-tandem mass spectrometry (LC-MS/MS) for precise hormone quantification.
- To address the current lack of established RIs for neonatal steroid hormone analysis.
Main Methods:
- Serum samples were collected from healthy term neonates at two time points: day 3-8 (T1) and day 13-15 (T2).
- LC-MS/MS was employed to measure concentrations of cortisol, cortisone, corticosterone, 11-deoxycortisol, 21-deoxycortisol, 11-deoxycorticosterone, testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP).
- Reference intervals were calculated for each hormone at both time points, with specific attention to sex differences for testosterone.
Main Results:
- LC-MS/MS based RIs were successfully established for all measured steroid hormones in neonates.
- Specific RIs (in nmol/L) were determined for cortisone, cortisol, corticosterone, 11-deoxycortisol, 17-OHP, androstenedione, 11-deoxycorticosterone, and 21-deoxycortisol at T1 and T2.
- Testosterone RIs showed significant differences between male and female neonates, with distinct intervals established for each sex at both time points.
Conclusions:
- This study successfully established LC-MS/MS based reference intervals for key steroid hormones in neonates.
- The established RIs are critical for accurate diagnosis and management of conditions like CAH and DSD in the neonatal period.
- These findings provide essential data for clinical laboratories and healthcare providers involved in neonatal endocrinology.
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 (T1, time of the neonatal screening) and 126 samples at day 13-15 (T2, two weeks old). Concentrations of cortisol, cortisone, corticosterone, 11-deoxycortisol, 21-deoxycortisol, 11-deoxycorticosterone, testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP) were measured using LC-MS/MS.
Results:
RIs (in nmol/L) were established for T1 and T2: cortisone (19.3-215;18.0-212), cortisol (10.0-407;8.4-446), corticosterone (<31;<50), 11-deoxycortisol (0.73-4.6;0.70-3.6), 17-OHP (<4.9;<5.1), androstenedione (0.3-1.8;0.3-2.7), 11-deoxycorticosterone (<0.2;<0.2), and 21-deoxycortisol (<1;<1), respectively. Testosterone differed between boys and girls: RIs at T1 and T2 for boys were 0.27-4.3 and 0.63-13.9, and for girls<0.30 and <0.47, respectively.
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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