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Adrenal steroids reference ranges in infancy determined by LC-MS/MS

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dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsEnver, Ece Oge; Vatansever, Pinar; Guran, Omer; Bilgin, Leyla; Boran, Perran; Turan, Serap; Haklar, Goncagul; Bereket, Abdullah; Guran, Tulay
dc.date.accessioned2022-03-12T22:57:17Z
dc.date.available2022-03-12T22:57:17Z
dc.description.abstractBackground Interpretation of the results of steroid hormone measurements is challenging at early infancy. The liquid chromatography-tandem mass spectrometry (LC-MS/MS) method provides a powerful tool for diagnosing steroidogenesis disorders. We aimed to develop normative data for a 14-steroid panel and four adrenal enzyme activity indices, determined by LC-MS/MS from 3 days to 6 months of age. Methods Age- and sex-specific plasma steroid concentrations were calculated in 324 healthy full-term neonates and infants (151 females). Percentile curves were devised. Steroid ratios were evaluated as biomarkers of adrenal enzyme activities. The steroid profiles of four patients with adrenal enzyme deficiencies were included to test the diagnostic efficiency. Results Nine steroids showed age, but none showed sex specificity. The concentrations of progestins and androgens were higher at 7-14 days than at 3-7 days. After the first month, adrenal androgen concentrations decreased significantly. Adrenal enzyme activities changed towards increasing cortisol over the first 6 months. There were several-fold differences in diagnostic steroids and related adrenal enzyme activity indices between the patients and the healthy group. Conclusions The majority of adrenal steroids show age-related variations in the neonatal period and early infancy. Our data will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis. Impact LC-MS/MS method is capable of quantitating numerous analytes simultaneously, which provides an integrated picture of adrenal steroidogenesis in a small amount of sample. The development of LC-MS/MS-based normative data of steroid hormones in healthy infants is crucial to differentiate physiologic alterations from steroidogenic defects during the first 3-6 months of infancy. Previous studies had limitations due to the small numbers of samples available by sex and by age groups. Our detailed normative data and percentile curves will enable accurate interpretation of steroid measurements for etiologic diagnosis of disorders of steroidogenesis without the need for further invasive testing.
dc.identifier.doi10.1038/s41390-021-01739-5
dc.identifier.eissn1530-0447
dc.identifier.issn0031-3998
dc.identifier.pubmed34556810
dc.identifier.urihttps://hdl.handle.net/11424/237019
dc.identifier.wosWOS:000698547700001
dc.language.isoeng
dc.publisherSPRINGERNATURE
dc.relation.ispartofPEDIATRIC RESEARCH
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTANDEM MASS-SPECTROMETRY
dc.subjectREFERENCE INTERVALS
dc.subject1ST YEAR
dc.subjectHYPERPLASIA
dc.subjectDEHYDROEPIANDROSTERONE
dc.subjectTESTOSTERONE
dc.subjectALDOSTERONE
dc.subjectCATABOLISM
dc.subjectCHILDREN
dc.subjectHORMONES
dc.titleAdrenal steroids reference ranges in infancy determined by LC-MS/MS
dc.typearticle
dspace.entity.typePublication
local.avesis.id17da527c-5a94-4c64-9902-3cd9e3102570
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages10
oaire.citation.titlePEDIATRIC RESEARCH
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

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