Csehely Szilvia, Kun Adrienn, Orbán Edina, Katona Tamás, Orosz Mónika, Krasznai Zoárd Tibor, Deli Tamás, Jakab Attila
Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Debrecen, Nagyerdei krt. 98, 4032 Debrecen, Hungary.
Doctoral School of Informatics, University of Debrecen, 4028 Debrecen, Hungary.
Diagnostics (Basel). 2025 Jul 6;15(13):1724. doi: 10.3390/diagnostics15131724.
: Premature ovarian insufficiency (POI) is a complex and heterogeneous condition affecting women of reproductive age. Historically, most POI cases have been classified as idiopathic due to limited diagnostic capabilities. However, due to the success of oncologic treatments and the increasing number of gynecologic surgeries enabled by improved diagnostics, the proportion of iatrogenic POI cases has risen substantially. : To investigate the current prevalence of POI etiologies, to compare the etiological distribution between two POI cohorts from a single tertiary center-one historical (1978-2003) and one contemporary (2017-2024)-and to explore how the spectrum of underlying causes has changed over the past four decades. : Data from 111 women diagnosed with POI between 2017 and 2024 were retrospectively reviewed and compared with those from a historical cohort of 172 patients. Etiologies were classified as genetic, autoimmune, iatrogenic, or idiopathic. Statistical comparisons were performed using chi-square and z-tests. Hormonal profiles and reproductive outcomes were also analyzed. : The current prevalence of POI etiologies is as follows: genetic 9.9%, autoimmune 18.9%, iatrogenic 34.2%, idiopathic 36.9%. In the historical POI cohort, etiologies were classified as genetic in 11.6%, autoimmune in 8.7%, iatrogenic in 7.6%, and idiopathic in 72.1%. The changes in the prevalence of autoimmune, iatrogenic, and idiopathic POI were statistically significant ( < 0.05). Reproductive outcomes remained limited: 10 pregnancies occurred in each cohort, with 7 live births in the contemporary group. : Our findings suggest a significant shift in the etiological landscape of POI, with a notable, more than fourfold rise in identifiable iatrogenic cases and a twofold increase in the autoimmune group, resulting in a halving of idiopathic POI. Prevalence of genetic etiology remained unchanged. While diagnostic capabilities have improved, reproductive outcomes remain largely unchanged and suboptimal.
卵巢早衰（POI）是一种影响育龄女性的复杂且异质性疾病。历史上，由于诊断能力有限，大多数POI病例被归类为特发性。然而，由于肿瘤治疗的成功以及诊断技术改进使妇科手术数量增加，医源性POI病例的比例大幅上升。
目的是调查POI病因的当前患病率，比较来自单一三级中心的两个POI队列（一个历史队列，1978 - 2003年；一个当代队列，2017 - 2024年）之间的病因分布，并探讨在过去四十年中潜在病因谱是如何变化的。
回顾性分析了2017年至2024年间诊断为POI的111名女性的数据，并与172名患者的历史队列数据进行比较。病因分为遗传、自身免疫、医源性或特发性。采用卡方检验和z检验进行统计学比较。还分析了激素水平和生殖结局。
POI病因的当前患病率如下：遗传因素占9.9%，自身免疫因素占18.9%，医源性因素占34.2%，特发性因素占36.9%。在历史POI队列中，病因分类为遗传因素占11.6%，自身免疫因素占8.7%，医源性因素占7.6%，特发性因素占72.1%。自身免疫性、医源性和特发性POI患病率的变化具有统计学意义（P<0.05）。生殖结局仍然有限：每个队列中有10例妊娠，当代组有7例活产。
我们的研究结果表明，POI的病因格局发生了显著变化，可识别的医源性病例显著增加，超过四倍，自身免疫组增加了两倍，导致特发性POI减半。遗传病因的患病率保持不变。虽然诊断能力有所提高，但生殖结局基本未变且不理想。
