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Serum steroid metabolome dynamics in infancy: a longitudinal cohort study of healthy infants
Alexander Siegfried Busch1,2,3, Marie Lindhardt Ljubicic2,3, Emmie N Upners2,3
1Department of General Pediatrics, University of Münster, 48149 Münster, Germany.
Insights
Infant steroid hormone levels change significantly during the first year, with cortisol increasing and others decreasing. These findings establish reference curves for diagnosing steroidogenesis disorders.
Area of Science:
- Endocrinology
- Metabolomics
- Pediatric Research
Background:
- Infancy involves significant steroid metabolome shifts due to adrenal cortex development and minipuberty.
- Longitudinal data on infant steroid profiles using LC-MS/MS are limited.
- Understanding these changes is crucial for diagnosing infant endocrine disorders.
Purpose of the Study:
- To map the temporal dynamics of the serum steroid metabolome in healthy infants.
- To establish sex- and age-specific reference curves for infant steroid hormones.
- To provide a comprehensive characterization of infant steroidogenesis.
Main Methods:
- Prospective, longitudinal birth cohort study (Copenhagen Minipuberty Study).
- Serum levels of 16 steroid hormones measured by LC-MS/MS in 189 infants (88 girls, 101 boys).
- Age-specific reference values modeled using Generalized Additive Models for Location, Scale and Shape (GAMLSS).
Main Results:
- Distinct infant steroid metabolome patterns observed: increasing cortisol and 11-deoxycorticosterone, decreasing progesterone and androgens.
- Most trends were sex-independent, except for higher 17β-hydroxysteroid dehydrogenase activity in boys.
- No significant sex differences in key steroidogenic enzyme activities were noted, barring sex steroid conversion.
Conclusions:
- Comprehensive characterization of the infant serum steroid metabolome throughout the first year of life.
- Developed age-specific reference curves aid in diagnosing and monitoring rare steroidogenesis disorders.
- Findings support clinical applications for understanding infant endocrine development and disease.
Objective:
The circulating steroid metabolome exhibits significant changes in both girls and boys during infancy, reflecting structural and functional changes in the adrenal cortex as well as the transient activation of the hypothalamic-pituitary-gonadal axis during minipuberty. However, longitudinal data characterizing these changes using liquid chromatography-tandem mass spectrometry (LC-MS/MS) remain limited. This study aimed to map the temporal dynamics of the serum steroid metabolome in healthy infants and establish sex- and age-specific reference curves.
Design:
Prospective, longitudinal birth cohort study (Copenhagen Minipuberty Study, 2016-2018; NCT02784184) including healthy, term, singleton newborns followed with repeated assessments during the first year of life.
Methods:
Serum levels of 16 steroid hormones were measured by LC-MS/MS in 88 girls and 101 boys in a total of 446 longitudinal samples. Age-specific reference values were modeled using Generalized Additive Models for Location, Scale and Shape (GAMLSS).
Results:
The steroid metabolome exhibited distinct patterns during infancy, characterized by increasing concentrations of cortisol and 11-deoxycorticosterone and decreasing levels eg, progesterone, 11-deoxycortisol, 17-hydroxyprogesterone, and androstenedione. These trends were largely independent of sex. Estimated activities of key steroidogenic enzymes did not differ significantly between sexes, except for sex steroid-related conversion; specifically, 17β-hydroxysteroid dehydrogenase activity was significantly higher in boys than girls (P < .001).
Conclusions:
These findings offer a comprehensive characterization of the serum steroid metabolome in healthy infants throughout the first year of life. The resulting age-specific reference curves may serve as valuable tools to support the clinical diagnosis and therapeutic monitoring of rare disorders of steroidogenesis. ClinicalTrials.gov ID: NCT01411527.
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