Genetic Variants of Estrogen Receptor β Gene in Girls with ICPP

Overview

This study investigates the association between ERβ gene polymorphisms RsaI and AluI and the risk of idiopathic central precocious puberty (ICPP) in girls. The findings suggest that the RsaI polymorphism is significantly associated with ICPP risk, while the AluI variant shows no significant association.

Background

Idiopathic central precocious puberty (ICPP) is characterized by the early onset of secondary sexual characteristics, with its etiology remaining largely unclear. Genetic polymorphisms, particularly in the estrogen receptor β (ERβ) gene, may influence the development of ICPP by affecting estrogen signaling pathways. Understanding these associations could aid in early risk assessment and management of ICPP.

Data Highlights

Key Findings

• The RsaI polymorphism is significantly associated with ICPP risk (OR = 1.58, P < 0.05).
• No significant association was found for the AluI polymorphism in ICPP.
• Haplotype analysis revealed a significant difference in haplotype distribution between ICPP and control groups.
• The Rraa haplotype was more prevalent in the ICPP group compared to controls.
• Genotyping of ERβ RsaI may aid in early risk assessment for ICPP.

Clinical Implications

The identification of the RsaI polymorphism as a risk factor for ICPP suggests that genetic testing could be considered in clinical assessments of girls at risk for early puberty. This may facilitate individualized management strategies and early intervention.

Conclusion

The study highlights the potential role of the ERβ RsaI polymorphism in the risk of ICPP, suggesting that further research is warranted to validate these findings and explore their clinical applications.

Related Resources & Content

1. Endocrine Society, Clinical Practice Guidelines, 2026 -- Central Precocious Puberty
2. The Journal of Clinical Endocrinology & Metabolism, 2021 -- Differentiating Between Genetic Variants and (Epi)Mutations in Silver–Russell Syndrome
3. The Journal of Clinical Endocrinology & Metabolism, 2021 -- Association of GLP-1R Gene Variants with Metabolic Characteristics in Children and Adolescents
4. The Journal of Clinical Endocrinology & Metabolism, 2021 -- A Structured Method for Analyzing Exome Sequencing in Early-Onset Primary Ovarian Insufficiency
5. Clinical Rheumatology — Genetic Susceptibility Factors for Juvenile Idiopathic Arthritis: An Association Study in Estonian Patients
6. Genetics and Epigenetics of Central Precocious Puberty - Endotext
7. Long-term Safety, Efficacy, and PROs: Phase 3 Study of Leuprolide Acetate 6-month IM Depot in Central Precocious Puberty
8. Central Precocious Puberty | Endocrine Society