Department of Clinical Science, University of Bergen, Bergen, Norway.
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway.
J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2656-e2663. doi: 10.1210/clinem/dgab140.
Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison's disease (AAD) than in the general population, but their clinical characteristics are insufficiently studied.
To assess the prevalence of POI in a large cohort of women with AAD and describe clinical, immunological, and genetic characteristics.
An observational population-based cohort study of the Norwegian National Addison Registry. The Norwegian Prescription Database was used to assess prescription of menopausal hormone replacement therapy (HRT). A total of 461 women with AAD were studied. The primary outcome measure was prevalence of POI. Secondary outcomes were clinical characteristics, autoantibodies, and genome-wide single nucleotide polymorphism variation.
The prevalence of POI was 10.2% (47/461) and one-third developed POI before 30 years of age. POI preceded or coincided with AAD diagnosis in more than half of the women. The prevalence of concomitant autoimmune diseases was 72%, and AAD women with POI had more autoantibodies than AAD women without (≥2 autoantibodies in 78% vs 25%). Autoantibodies against side-chain cleavage enzyme (SCC) had the highest accuracy with a negative predictive value for POI of 96%. HRT use was high compared to the age adjusted normal population (11.3 % vs 0.7%).
One in 10 women with AAD have POI. Autoantibodies against SCC are the most specific marker for autoimmune POI. We recommend testing women with AAD <40 years with menstrual disturbances or fertility concerns for autoantibodies against SCC.
原发性卵巢功能不全（POI）定义为 40 岁以前绝经。自身免疫性阿狄森病（AAD）患者的 POI 患病率高于普通人群，但对其临床特征的研究还不够充分。
评估大样本自身免疫性阿狄森病患者中 POI 的患病率，并描述其临床、免疫和遗传特征。
这是一项基于挪威全国阿狄森病注册中心的观察性人群队列研究。使用挪威处方数据库评估绝经激素替代治疗（HRT）的处方情况。共研究了 461 名 AAD 女性。主要结局指标是 POI 的患病率。次要结局指标是临床特征、自身抗体和全基因组单核苷酸多态性变异。
POI 的患病率为 10.2%（47/461），三分之一的患者在 30 岁之前发生 POI。POI 在一半以上的女性中先于或与 AAD 诊断同时发生。同时患有自身免疫性疾病的患病率为 72%，且 POI 合并 AAD 的女性比未合并 POI 的女性有更多的自身抗体（≥2 种自身抗体的比例分别为 78%和 25%）。针对侧链裂解酶（SCC）的自身抗体具有最高的准确性，其对 POI 的阴性预测值为 96%。与年龄调整后的正常人群相比，HRT 的使用率较高（11.3%对 0.7%）。
每 10 名 AAD 女性中就有 1 名患有 POI。针对 SCC 的自身抗体是自身免疫性 POI 最特异的标志物。我们建议对<40 岁的 AAD 女性，如果有月经紊乱或生育问题，应检测针对 SCC 的自身抗体。
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