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Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort
Elisa Galo1, Sofia Castro2, Daniela Amaral3
1Pediatric Department, Hospital da Luz, Lisbon, Portugal, elisagalo15@gmail.com.
Insights
Idiopathic central precocious puberty (ICPP) in boys has significantly increased in Portugal, especially during COVID-19. Genetic factors, like MKRN3 variants, were found in some cases, but environmental influences are also suspected.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Public Health
Background:
- Central Precocious Puberty (CPP) is a rare condition in boys, with idiopathic forms being particularly uncommon.
- This study focuses on characterizing the genetic basis of idiopathic CPP (ICPP) in a national cohort of Portuguese boys.
Purpose of the Study:
- To investigate the genetic architecture of idiopathic CPP in a national cohort of boys.
- To analyze trends in ICPP incidence among boys over two decades.
Main Methods:
- Retrospective and prospective study of boys with ICPP from the Portuguese national registry (past 20 years).
- Review of clinical, laboratory, and demographic data.
- Whole exome sequencing (WES) to identify pathogenic variants.
Main Results:
- Boys represented 8.2% of CPP cases; ICPP incidence increased significantly (19.1%/year), accelerating during the COVID-19 pandemic.
- Whole exome sequencing identified pathogenic MKRN3 variants in 13.3% of boys, including a novel variant.
- A clinically significant TP53 variant was incidentally detected.
Conclusions:
- ICPP incidence in Portuguese boys has markedly increased, with a notable acceleration during the pandemic.
- While MKRN3 variants are a key genetic cause, a significant portion of ICPP cases remain unexplained, suggesting environmental and epigenetic factors play a role.
Introduction:
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.
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.
Conclusion:
ICPP 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.
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