ESPE Yearbook of Paediatric Endocrinology

Pediatr Res. 2021; 92(1):265-274. doi: 10.1038/s41390-021-01739-5. PMID: 34556810https://pubmed.ncbi.nlm.nih.gov/34556810/

Brief Summary: This study provides a detailed set of normative reference values for steroidogenesis during the first 6 months of life, which may facilitate rapid testing of infants for steroidogenic disorders.

Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has become a relevant technique for clinical diagnostics. It has high analytical sensitivity and can quantify several analytes simultaneously. In adrenal enzyme deficiencies, accumulation of specific precursors occurs along with reduction of its relative steroid product. These disorders are often diagnosed in the first months of life and LC-MS/MS is, therefore, a useful methodology in order to assess steroidogenesis, because it provides a more complete picture using small sample volumes. However, normative data are required for valid interpretation.

These authors provide normative reference data for 14 adrenal steroids in the first 6 months of life, along with precursor-to-product steroid ratios for 21-hydroxylase, 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, and 11β-hydroxysteroid dehydrogenase-2. They included a large number of samples from healthy infants (n=324) aged 3 days to 6 months, overcoming the limitations of previous studies that had small numbers by sex and age. Moreover, four patients with molecularly proven 21-hydroxylase, 11β-hydroxylase, 3β-hydroxysteroid dehydrogenase, and aldosterone synthase deficiencies were included to test the steroid panel’s diagnostic efficacy. Due to the larger sample size, changes in steroids concentrations over time could also be observed. Most steroids showed age-related variations that could be attributed to the changes in adrenal morphology and steroidogenic enzyme expression.

In summary, the authors provide a detailed set of normative reference values for steroidogenesis during the first 6 months of life. This and similar future datasets may facilitate rapid testing of infants in neonatal screening for steroidogenic disorders.