@article{3119473,
    title = "Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty",
    author = "Theodoropoulou, S. and Papadopoulou, A. and Karapanou, O. and Priftis, K. and Papaevangelou, V. and Papadimitriou, A.",
    journal = "Endocrine Development",
    year = "2021",
    volume = "73",
    number = "2",
    pages = "455-462",
    publisher = "Springer-Verlag",
    doi = "10.1007/s12020-021-02695-0",
    keywords = "estrogen receptor alpha;  follitropin, adult;  Article;  birth weight;  body mass;  breast development;  case control study;  child;  controlled study;  disease severity;  DNA isolation;  female;  gene;  gene frequency;  gene linkage disequilibrium;  genetic association;  genetic polymorphism;  genotype;  homozygosity;  human;  major clinical study;  menarche;  nuclear magnetic resonance imaging;  obesity;  peripheral blood mononuclear cell;  phenotype;  polymerase chain reaction;  prospective study;  puberty;  restriction fragment length polymorphism;  school child;  single nucleotide polymorphism;  genetic polymorphism;  genetics;  precocious puberty;  puberty, Adult;  Estrogen Receptor alpha;  Female;  Genotype;  Humans;  Polymorphism, Genetic;  Puberty;  Puberty, Precocious",
    abstract = "Purpose: Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty Methods: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene. Results: There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017. Conclusion: XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height. © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature."
}