Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort
Authors' 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.
Study context
- Population
- Boys with idiopathic central precocious puberty (idiopathic CPP (ICPP)) in the Portuguese national registry over the past 2 decades15 boys sequenced
- Outcome
- Genetic architecture of ICPP (pathogenic variants by whole-exome sequencing (WES))
Methodological detailsnational registry, whole-exome sequencing
- National registry
- Whole-exome sequencing
Main finding
As reported in the abstract
Pathogenic MKRN3 variants on WES
Boys with pathogenic MKRN3 variants
13.3%
2/15
Novel MKRN3 variant
p.Asp267Asn
Observational data: associations, not effects.
Further findings
Males among children with central precocious puberty (CPP)
- Males among 736 children with CPP
- 8.2%
Temporal trend of CPP in boys · past 2 decades
- Total CPP cases in boys increased over time, particularly during COVID-19
- P < 0.001
- Secondary CPP remained stable
- P = 0.198
- Idiopathic forms increased per year (change points 2011 and 2021)
- 19.1%/year (p < 0.001)
Puberty onset in MKRN3-positive patients
- MKRN3-positive patients presented with later-onset puberty; sample size limits definitive conclusions
Original publication
Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort. Horm Res Paediatr. Published 30 March 2026. doi:10.
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