Jiao Xue, Zhang Huihui, Ke Hanni, Zhang Jiangtao, Cheng Lei, Liu Yixun, Qin Yingying, Chen Zi-Jiang
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated with Shandong University, Jinan, 250001, Shandong, China.
National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, 250001, Shandong, China.
J Clin Endocrinol Metab. 2017 Jul 1;102(7):2281-2290. doi: 10.1210/jc.2016-3960.
Premature ovarian insufficiency (POI) is highly heterogeneous, both in phenotype and etiology. They are not yet clearly stated and correlated.
To characterize clinical presentations of a large, well-phenotyped cohort of women with POI, and correlate phenotypes with etiologies to draw a comprehensive clinical picture of POI.
DESIGN, PATIENTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: In this retrospective study, a total of 955 Chinese women with overt POI between 2006 and 2015 were systemically evaluated and analyzed. The phenotypic features, including menstrual characteristics, hormone profiles, ovarian ultrasonography/biopsy, pregnancy/family history, and genetic/autoimmune/iatrogenic etiologies were assessed and further compared within different subgroups.
Among 955 women with POI, 85.97% presented with secondary amenorrhea (SA) and 14.03% with primary amenorrhea (PA). PA represented the most severe ovarian dysfunction and more chromosomal aberrations than SA. The decline of ovarian function in patients with SA progressed quickly. They had shortened reproductive periods (approximately 10 years) and developed amenorrhea within 1 to 2 years after menstrual irregularity. The ovaries were invisible or small, and the presence of follicles (28.43%) was correlated with other good reproductive indicators. Familial patients (12.25%) manifested better ovarian status and fewer chromosomal aberrations than sporadic patients. The etiologies consisted of genetic (13.15%), autoimmune (12.04%), and iatrogenic (7.29%), approximately 68% remaining idiopathic. There were significant differences among different etiologies, with the genetic group representing the most severe phenotype.
Our results regarding distinct phenotypic characteristics and association with different etiologies further confirmed the high heterogeneity of POI. Additional longitudinal clinical studies and pathogenesis research are warranted.
卵巢早衰（POI）在表型和病因方面具有高度异质性。目前尚未明确阐述并关联二者。
对一大群具有明确表型的POI女性的临床表现进行特征描述，并将表型与病因相关联，以勾勒出POI全面的临床图景。
设计、患者、干预措施及主要观察指标：在这项回顾性研究中，对2006年至2015年间的955名明显患有POI的中国女性进行了系统评估和分析。评估了包括月经特征、激素水平、卵巢超声检查/活检、妊娠/家族史以及遗传/自身免疫/医源性病因等表型特征，并在不同亚组中进一步比较。
在955名POI女性中，85.97%表现为继发性闭经（SA），14.03%表现为原发性闭经（PA）。与SA相比，PA代表最严重的卵巢功能障碍且染色体畸变更多。SA患者的卵巢功能下降迅速。她们的生育期缩短（约10年），月经不规律后1至2年内出现闭经。卵巢不可见或较小，卵泡的存在（28.43%）与其他良好的生殖指标相关。家族性患者（12.25%）的卵巢状态较好，染色体畸变比散发性患者少。病因包括遗传（13.15%）、自身免疫（12.04%）和医源性（7.29%），约68%仍为特发性。不同病因之间存在显著差异，遗传组代表最严重的表型。
我们关于不同表型特征以及与不同病因关联的结果进一步证实了POI的高度异质性。有必要进行更多的纵向临床研究和发病机制研究。
