The genetic etiology is a relevant cause of central precocious puberty
Authors' conclusion
Distinct genetic causes were identified in 12.6% patients with apparently idiopathic CPP, revealing the genetic etiology as a relevant cause of CPP in both sexes. Family history and neurodevelopmental disorders were suggested as predictors of genetic CPP. We originally proposed an algorithm to investigate the etiology of CPP including genetic studies.
Study context
- Population
- Patients with central precocious puberty (CPP) from a single academic center; those with negative brain magnetic resonance imaging (MRI) (apparently idiopathic) underwent genetic studies174 had genetic studies
- Participants
- 270 patients
- Outcome
- Prevalence of CPP causes and predictors of genetic involvement
Methodological detailssingle-centre, etiological survey
- Single-centre
- Etiological survey
Main finding
As reported in the abstract
Etiology of CPP
- CPP-related brain lesions
- 50 (18.5%)
- Congenital lesions among brain lesions
- 34 [68%]
- Negative brain MRI
- 220
- Genetic etiology identified (of 174 with genetic studies)
- 22 patients (20 girls)
- Overall frequency of genetic CPP
- 12.6%
- Genetic CPP in boys
- 22.2%
- Genetic CPP in girls
- 12.1%
Observational data: associations, not effects.
Further findings
Clinical predictors of genetic CPP (univariate logistic regression)
- Family history, OR
- 3.3 (95% CI 1.3-8.3; P = .01)
- Neurodevelopmental disorders, OR
- 4.1 (95% CI 1.3-13.5; P = .02)
- Univariate
Original publication
The genetic etiology is a relevant cause of central precocious puberty. Eur J Endocrinol. Published 10 June 2024. doi:10.
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