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Idiopathic Central Precocious Puberty in Boys

2026-03-30Artigo científico Acesso aberto
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dc.contributor.authorGalo, Elisa
dc.contributor.authorCastro, Sofia
dc.contributor.authorAmaral, Daniela
dc.contributor.authorEspada, Filipa
dc.contributor.authorBrandão, Carla Maria Dos Santos Silva
dc.contributor.authorLeite, Ana Luísa
dc.contributor.authorFerreira, Sofia
dc.contributor.authorCaetano, Francisco
dc.contributor.authorRobalo, Brígida
dc.contributor.authorCerqueira, Rita
dc.contributor.authorLimbert, Catarina
dc.contributor.institutionComprehensive Health Research Centre (CHRC) - pólo NMS
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblS. Karger AG
dc.date.accessioned2026-04-24T15:46:01Z
dc.date.available2026-04-24T15:46:01Z
dc.date.issued2026-03-30
dc.descriptionThe Author(s). Published by S. Karger AG, Basel.
dc.description.abstractINTRODUCTION: Central Precocious Puberty (CPP) is rare in boys, and idiopathic forms are particularly uncommon. This study characterizes the genetic architecture of idiopathic CPP (ICPP) in a national cohort of boys. DESIGN AND METHODS: We conducted a retrospective and prospective study of boys with ICPP recorded in the Portuguese national registry over the past 2 decades. Clinical, laboratory and demographic characteristics of the patients were reviewed. Whole exome sequencing (WES) was performed to identify pathogenic variants. RESULTS: Of 736 children with CPP, 8.2% were males. Total CPP cases in boys increased significantly over time (p<0.001), particularly during COVID-19. While secondary CPP remained stable (p=0.198), idiopathic forms increased by 19.1%/year (p<0.001), with change points in 2011 and 2021. WES identified pathogenic MKRN3 variants in 13.3% (2/15) boys, including a novel variant (p.Asp267Asn). MKRN3-positive patients presented with later-onset puberty, though sample size limits definitive conclusions. WES also detected a clinically significant TP53 variant as an incidental finding. CONCLUSIONS: ICPP incidence in Portuguese boys increased significantly over two decades, with acceleration during the pandemic. While genetic causes (primarily MKRN3 variants) were identified in 13.3% of cases, the substantial proportion of unexplained cases and temporal clustering indicate important roles for environmental and epigenetic factors.en
dc.description.versionpublishersversion
dc.description.versionepub_ahead_of_print
dc.format.extent21
dc.format.extent2629671
dc.identifier.doi10.1159/000551720
dc.identifier.issn1663-2818
dc.identifier.otherPURE: 161047551
dc.identifier.otherPURE UUID: a003fe30-a4f9-46b1-b56f-598040922721
dc.identifier.otherPubMed: 41911157
dc.identifier.otherWOS: 001796471500001
dc.identifier.urihttp://hdl.handle.net/10362/202547
dc.language.isoeng
dc.peerreviewedyes
dc.titleIdiopathic Central Precocious Puberty in Boysen
dc.title.subtitleResults From a National Portuguese Cohorten
dc.typejournal article
degois.publication.firstPage1
degois.publication.lastPage21
degois.publication.titleHORMONE RESEARCH IN PAEDIATRICS
dspace.entity.typePublication
rcaap.rightsopenAccess

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