Alexander Siegfried Busch, Marie Lindhardt Ljubicic, Emmie N Upners, Margit Bistrup Fischer, Casper P Hagen, Christa E Flück, Trine Holm Johannsen, Hanne Frederiksen, Anders Juul
{"title":"婴儿血清类固醇代谢动力学：健康婴儿的纵向队列研究。","authors":"Alexander Siegfried Busch, Marie Lindhardt Ljubicic, Emmie N Upners, Margit Bistrup Fischer, Casper P Hagen, Christa E Flück, Trine Holm Johannsen, Hanne Frederiksen, Anders Juul","doi":"10.1093/ejendo/lvaf193","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Design: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"403-411"},"PeriodicalIF":5.2000,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Serum steroid metabolome dynamics in infancy: a longitudinal cohort study of healthy infants.\",\"authors\":\"Alexander Siegfried Busch, Marie Lindhardt Ljubicic, Emmie N Upners, Margit Bistrup Fischer, Casper P Hagen, Christa E Flück, Trine Holm Johannsen, Hanne Frederiksen, Anders Juul\",\"doi\":\"10.1093/ejendo/lvaf193\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Design: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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. 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Serum steroid metabolome dynamics in infancy: a longitudinal cohort study of healthy infants.
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.
期刊介绍：
European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica.
The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology.
Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials.
Equal consideration is given to all manuscripts in English from any country.
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