Neves Ana Raquel, Pais Ana Sofia, Ferreira Susana Isabel, Ramos Vera, Carvalho Maria João, Estevinho Alexandra, Matoso Eunice, Geraldes Fernanda, Marques Carreira Isabel, Águas Fernanda
Department of Gynecology. Centro Hospitalar e Universitário de Coimbra. Coimbra. University Clinic of Gynecology. Faculty of Medicine. University of Coimbra. Clinical Academic Center of Coimbra. Coimbra; University Clinic of Gynecology, Faculty of Medicine, University of Coimbra, Clinical Academic Center of Coimbra, CACC, Coimbra, Portugal.
Department of Gynecology. Centro Hospitalar e Universitário de Coimbra. Coimbra. University Clinic of Gynecology. Faculty of Medicine. University of Coimbra. Clinical Academic Center of Coimbra. Coimbra. Portugal.
Acta Med Port. 2021 Aug 31;34(9):580-585. doi: 10.20344/amp.13490. Epub 2020 Oct 29.
Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic cases and up to 13% in familial cases. Our aim was to describe the clinical characteristics, cytogenetic and FMR1 testing of a Portuguese population with premature ovarian insufficiency.
Women diagnosed with premature ovarian insufficiency in a Portuguese tertiary centre were retrospectivelyanalysed. Data were retrieved from electronic medical records including clinical characteristics, cytogenetic and FMR1 testing. The main outcome measures were the prevalence of chromosome abnormalities and FMR1 premutation in a Portuguese population with premature ovarian insufficiency.
Ninety-four patients were included, with a median age at menopause of 36 years. The prevalence of chromosome abnormalities was 16.5% (14/85) and most were X chromosome related (78.6%). The prevalence of FMR1 premutation was 6.7% (6/90). The prevalence of karyotypic abnormalities or FMR1 premutation did not differ significantly between familial and sporadic cases. Neither chromosome abnormalities nor FMR1 premutation influenced age at menopause or follicle stimulating hormone levels at diagnosis in premature ovarian insufficiency patients.
This is the first study describing the clinical characteristics and both cytogenetic and FMR1 testing in a Portuguese population with premature ovarian insufficiency. The rate of chromosome abnormalities in our sample was higher than in other populations, while the prevalence of FMR1 premutation was similar to previous reports.
Our results underline the importance of genetic screening in premature ovarian insufficiency patients in both etiological study and genetic counselling.
染色体异常约占早发性卵巢功能不全病例的10%。大多数与X染色体相关。脆性X智力低下1（FMR1）基因前突变在散发性病例中的估计患病率为1% - 7%，在家族性病例中高达13%。我们的目的是描述葡萄牙早发性卵巢功能不全人群的临床特征、细胞遗传学和FMR1检测情况。
对在葡萄牙一家三级中心被诊断为早发性卵巢功能不全的女性进行回顾性分析。数据从电子病历中获取，包括临床特征、细胞遗传学和FMR1检测。主要观察指标是葡萄牙早发性卵巢功能不全人群中染色体异常和FMR1前突变的患病率。
纳入94例患者，绝经中位年龄为36岁。染色体异常的患病率为16.5%（14/85），大多数与X染色体相关（78.6%）。FMR1前突变的患病率为6.7%（6/90）。家族性和散发性病例中核型异常或FMR1前突变的患病率无显著差异。染色体异常和FMR1前突变均未影响早发性卵巢功能不全患者的绝经年龄或诊断时的促卵泡生成素水平。
这是第一项描述葡萄牙早发性卵巢功能不全人群临床特征以及细胞遗传学和FMR1检测情况的研究。我们样本中染色体异常的发生率高于其他人群，而FMR1前突变的患病率与先前报道相似。
我们的结果强调了对早发性卵巢功能不全患者进行基因筛查在病因学研究和遗传咨询中的重要性。
