Pastore Lisa M, McMurry Timothy L, Williams Christopher D, Baker Valerie L, Young Steven L
Department of Obstetrics and Gynecology, School of Medicine, University of Virginia, Box 800712, Charlottesville, VA, 22908-0712, USA,
J Assist Reprod Genet. 2014 Oct;31(10):1295-301. doi: 10.1007/s10815-014-0276-2. Epub 2014 Jun 18.
We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype. Research is inconsistent on the relationship between AMH and FMR1 repeat length, controlling for age.
Seventy-nine cycling women diagnosed with DOR, and without a family history of fragile X syndrome, provided blood for FMR1 and AMH testing. DOR was defined as elevated FSH and/or low AMH and/or low antral follicle count, with regular menses. FMR1 CGG repeats were stratified by the larger allele <35 repeats (n = 70) v. ≥35 repeats (n = 9). Quadratic and linear models were fit to predict log (AMH) controlling for age. The AMH sample used as the outcome variable was drawn at a later date than the diagnostic AMH.
Serum AMH concentration median was 0.30 ng/mL; Ages ranged from 26-43 years. A quadratic model (including age(2)) did not show a relationship with FMR1 CGG level (p-value = 0.25). A linear model of log (AMH), corresponding to an exponential decline of AMH with increasing age, was significantly different, and had a steeper slope, for women with ≥ 35 CGG repeats than women with < 35 repeats (p = 0.035).
Findings suggest a greater rate of follicular loss that starts at later ages in women with DOR and ≥ 35 CGG repeats.
我们探讨了抗苗勒管激素（AMH）作为卵母细胞供应的替代指标，在诊断为卵巢储备功能减退（DOR）（原发性卵巢功能不全表型的一个子集）的女性中是否因FMR1基因分型而异。关于AMH与FMR1重复长度之间的关系，在控制年龄的情况下，研究结果并不一致。
79名诊断为DOR且无脆性X综合征家族史的月经周期正常的女性提供血液进行FMR1和AMH检测。DOR定义为促卵泡生成素（FSH）升高和/或AMH降低和/或窦卵泡计数低，且月经规律。FMR1 CGG重复序列按较大等位基因<35次重复（n = 70）与≥35次重复（n = 9）进行分层。采用二次和线性模型预测控制年龄后的log（AMH）。用作结果变量的AMH样本采集时间晚于诊断性AMH。
血清AMH浓度中位数为0.30 ng/mL；年龄范围为26 - 43岁。二次模型（包括年龄²）未显示与FMR1 CGG水平有关（p值 = 0.25）。log（AMH）的线性模型，对应于AMH随年龄增长呈指数下降，对于CGG重复序列≥35次的女性与<35次的女性有显著差异，且斜率更陡（p = 0.035）。
研究结果表明，DOR且CGG重复序列≥35次的女性卵泡丢失率更高，且始于较晚年龄。
