Evidence map›Paper›PMID 41911157›Full record

ArticleHormone research in paediatrics2026

Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort.

Elisa Galo, Sofia Castro, Daniela Amaral, Filipa Espada, Carla Brandão, Ana Luísa Leite, Sofia Ferreira, Francisco Branco Caetano, Brígida Robalo, Rita Cerqueira and 1 more

Abstract read
In one paragraph

Article in Hormone research in paediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Elisa GaloPediatric Department, Hospital da Luz, Lisbon, Portugal, elisagalo15@gmail.com.
Sofia CastroPediatric Department, Local Health Unit of Arco Ribeirinho, Barreiro, Portugal.
Daniela AmaralPediatric Department, Hospital Lusíadas, Lisbon, Portugal.
Filipa EspadaUnit of Pediatric Endocrinology, Hospital Pedro Hispano, Local Health Unit of Matosinhos, Senhora da Hora, Portugal.
Carla BrandãoPediatric Department, Local Health Unit, Tâmega e Sousa, Penafiel, Portugal.
Ana Luísa LeiteUnit of Pediatric Endocrinology, Local Health Unit of Gaia and Espinho, Vila Nova de Gaia, Portugal.
Sofia FerreiraUnit of Pediatric Endocrinology, Local Heath Unit of São João, Porto, Portugal.
Francisco Branco CaetanoUnit of Pediatric Endocrinology, Hospital Dona Estefânia, Local Health Unit of São José, Lisbon, Portugal.
Brígida RobaloPediatric Department, Local Health Unit of Santa Maria, Lisbon, Portugal.
Rita CerqueiraCGC Genetics Unilabs, Porto, Portugal.
Catarina LimbertUnit of Pediatric Endocrinology, Hospital Dona Estefânia, Local Health Unit of São José, Lisbon, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCentral 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.

methodsWe 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.

resultsOf 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.

conclusionICPP incidence in Portuguese boys increased significantly over 2 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.

Indexed as

BoysGenesGenotype-phenotype correlationIdiopathic central precocious pubertyTrend

Identifiers

PMID41911157
PMCPMC13262990

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