Differential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study

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dc.catalogadoraba
dc.contributor.authorRodríguez, Fernando
dc.contributor.authorPonce, Diana
dc.contributor.authorMiranda Marín, José Patricio
dc.contributor.authorSantos Martín, José Luis
dc.contributor.authorCutler Jr., Gordon B.
dc.contributor.authorPereira, Ana
dc.contributor.authorBarnafi, Esteban
dc.contributor.authorIniguez, Germán
dc.contributor.authorMericq, Verónica
dc.date.accessioned2025-09-12T15:30:13Z
dc.date.available2025-09-12T15:30:13Z
dc.date.issued2024
dc.description.abstractIntroduction: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been reported in girls with premature adrenarche. Epigenetic modifications, specifically CpG methylation, may affect gene expression and/or activity of steroidogenic enzymes during developmental changes in adrenal androgen secretion. Objective: The aim of the study was to determine whether circulating 11-oxyandrogen levels in post-menarcheal girls are associated with the methylation status of genes involved in 11- oxyandrogen steroidogenesis. Methods: Ninety-seven healthy girls followed since the age of 3 years were classified, according to DHEAS serum concentration at age 6.7 years, as normal DHEAS (<42 μg/dL [75th percentile for population]) or high DHEAS (≥42 μg/dL). At Tanner stage 2, themethylation status of CpG sites located in CYP11B1 and HSD11B2 genes was analyzed in genomic DNA from peripheral blood leukocytes by the melting curve analysis methylation assay. Eleven-oxyandrogen concentrations were assessed at 4 years post menarche. Results: Significantly lower methylation levels were detected in the CYP11B1 gene in girls with high versus normal serum DHEAS levels, with no differences found in HSD11B2 gene. Additionally, CYP11B1 methylation status correlated inversely with 11β-hydroxy-androstenedione and 11-ketotestosterone levels. Furthermore, CYP11B1 methylation in the full cohort correlated inversely with insulin concentration at Tanner 1 and with body mass index at Tanner stage 1 and 2. Conclusion: This pilot study proposes the hypothesis that a lowermethylation of CYP11B1 may be a mechanism contributing to increased concentrations of 11-oxyandrogens in premature adrenarche and its associated metabolic risk.
dc.description.funderANID/FONDECYT; Folio: 1140447 y 1190346
dc.description.funderFONDECYT; Folio: 1120326
dc.description.funderFONDECYT; Folio: 1150416
dc.format.extent9 páginas
dc.fuente.origenSCOPUS
dc.identifier.doi10.1159/000542963
dc.identifier.eissn1663-2826
dc.identifier.issn1663-2818
dc.identifier.pubmedid39675347
dc.identifier.scopusidSCOPUS_ID:85217102913
dc.identifier.urihttps://doi.org/10.1159/000542963
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/105675
dc.identifier.wosidWOS:001410904400001
dc.information.autorucEscuela de Medicina; Santos Martín, José Luis; 0000-0003-2895-0369; 1005923
dc.information.autorucEscuela de Medicina; Miranda Marín, José Patricio; 0000-0002-8270-1112; 1126717
dc.language.isoen
dc.nota.accesocontenido parcial
dc.publisherS. Karger AG
dc.revistaHormone Research in Paediatrics
dc.rightsacceso restringido
dc.subject11-Oxyandrogen
dc.subjectCYP11B1
dc.subjectDHEAS
dc.subjectMethylation
dc.subjectPremature adrenarche
dc.subject.ddc610
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleDifferential Methylation of CYP11B1 in Girls with High DHEAS Levels and Correlation with 11-Oxyandrogen Levels: A Pilot Study
dc.typeartículo
sipa.codpersvinculados1005923
sipa.codpersvinculados1126717
sipa.trazabilidadSCOPUS;2025-02-23
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