Pediatric Endocrinology Unit, Third Department of Pediatrics, "Attikon" University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Endocrine. 2021 Aug;73(2):455-462. doi: 10.1007/s12020-021-02695-0. Epub 2021 May 4.
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.
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.
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.
研究雌激素受体 α（ERα）多态性与性早熟的关系的研究较少，结果也存在争议；缺乏白种人女孩的数据。主要目的是确定希腊女孩 ERα 基因 Xbal 和 Pvull 多态性与性早熟/青春期提前的关系。
我们研究了 107 例特发性性早熟/青春期提前的女孩和 81 例青春期成熟在正常年龄的年轻女性（对照组）。在患者中确定了青春期阶段、身高标准差评分（HSDS）和 BMI z 评分。在对照组中，测量了身高，并且自我报告了初潮年龄。所有研究参与者均进行了 ERα 基因 XbaI 和 PvuII 多态性的基因分型。
患者和对照组之间 XbaI 和 PvuII 多态性无显著差异。xx 和 pp 纯合子女孩的青春期起始稍早，尽管无统计学意义（p=0.9）；在青春期起始<7 岁的女孩中，这种关联趋于显著，p=0.09。xxpp 基因型的女孩明显更高，HSDS 为 1.63，p=0.014。在对照组中，Xbal（xx）和 PvuII（pp）的纯合性与无多态性的女性相比，初潮明显更早，p=0.013 和 p=0.026，xxpp 基因型与成年身高更高有关，p=0.017。
XbaI 和 PvuII 多态性与特发性性早熟/青春期提前无关。这两种多态性均为纯合子的青春期提前女孩的青春期起始更早，尽管统计学上无显著差异，但身高更高，与杂合子或无这些多态性的女孩相比。两种多态性的纯合性与初潮更早和成年身高更高有关。
