Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Front Endocrinol (Lausanne). 2021 Nov 30;12:784195. doi: 10.3389/fendo.2021.784195. eCollection 2021.
In autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) defects in the autoimmune regulator gene lead to impaired immunotolerance. We explored the effects of immunodeficiency and endocrinopathies on gynecologic health in patients with APECED.
Cross-sectional cohort study combined with longitudinal follow-up data.
We carried out a gynecologic evaluation, pelvic ultrasound, and laboratory and microbiologic assessment in 19 women with APECED. Retrospective data were collected from previous study visits and hospital records.
The study subjects' median age was 42.6 years (range, 16.7-65.5). Sixteen patients (84%) had premature ovarian insufficiency, diagnosed at the median age of 16.5 years; 75% of them used currently either combined contraception or hormonal replacement therapy. In 76% of women, the morphology and size of the uterus were determined normal for age, menopausal status, and current hormonal therapy. Fifteen patients (79%) had primary adrenal insufficiency; three of them used dehydroepiandrosterone substitution. All androgen concentrations were under the detection limit in 11 patients (58%). Genital infections were detected in nine patients (47%); most of them were asymptomatic. Gynecologic infection was detected in four patients (21%); one of the strains was resistant to azoles. Five patients (26%) had human papillomavirus infection, three of which were high-risk subtypes. Cervical cell atypia was detected in one patient. No correlation between genital infections and anti-cytokine autoantibodies was found.
Ovarian and adrenal insufficiencies manifested with very low androgen levels in over half of the patients. Asymptomatic genital infections, but not cervical cell atypia, were common in female patients with APECED.
在自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良（APECED）中，自身免疫调节基因的缺陷导致免疫耐受受损。我们探讨了免疫缺陷和内分泌疾病对 APECED 患者妇科健康的影响。
横断面队列研究结合纵向随访数据。
我们对 19 名 APECED 女性进行了妇科评估、盆腔超声检查以及实验室和微生物评估。回顾性数据来自之前的研究访问和医院记录。
研究对象的中位年龄为 42.6 岁（范围 16.7-65.5）。16 名患者（84%）患有卵巢早衰，中位诊断年龄为 16.5 岁；其中 75%的患者目前使用联合避孕药或激素替代疗法。在 76%的女性中，子宫的形态和大小与年龄、绝经状态和当前激素治疗相符。15 名患者（79%）患有原发性肾上腺功能不全；其中 3 名患者使用脱氢表雄酮替代治疗。11 名患者（58%）的所有雄激素浓度均低于检测下限。9 名患者（47%）检测到生殖器感染；其中大多数患者无症状。4 名患者（21%）检测到妇科感染；其中一株对唑类药物耐药。5 名患者（26%）感染了人乳头瘤病毒，其中 3 种为高危亚型。1 名患者的宫颈细胞出现非典型增生。未发现生殖器感染与细胞因子自身抗体之间存在相关性。
超过一半的患者表现出卵巢和肾上腺功能不全，且雄激素水平极低。无症状的生殖器感染，但没有宫颈细胞非典型增生，在 APECED 女性中很常见。
