Publicação
Idiopathic Central Precocious Puberty in Boys
| Resumo: | 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. 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. |
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| Autores principais: | Galo, Elisa |
| Outros Autores: | Castro, Sofia; Amaral, Daniela; Espada, Filipa; Brandão, Carla Maria Dos Santos Silva; Leite, Ana Luísa; Ferreira, Sofia; Caetano, Francisco; Robalo, Brígida; Cerqueira, Rita; Limbert, Catarina |
| Ano: | 2026 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade Nova de Lisboa |
| Idioma: | inglês |
| Origem: | Repositório Institucional da UNL |
| Resumo: | 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. 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. |
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