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

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.