Department of Pediatrics, Azienda Ospedaliera San Gerardo, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Department of Gynecology and Obstetrics, Azienda Ospedaliera San Gerardo, Fondazione Monza e Brianza per il Bambino e la Sua Mamma, Monza, Italy.
Front Endocrinol (Lausanne). 2020 Sep 25;11:540683. doi: 10.3389/fendo.2020.540683. eCollection 2020.
Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely (), () and (). We also describe a different degree of residual ovarian function within the proband's family, whose female members carry one to three demonstrated variations in the aforementioned genes in a clinical potentially dependent on the number of alleles involved. Our results support the hypothesis that the severity of the clinical picture of the proband, resulting in complete ovarian dysgenesis, may be due to a synergic detrimental effect of inherited genetic variants.
由于卵巢发育不良导致的非综合征性原发性卵巢功能不全在普通人群中较为罕见，尽管已经报道了几种单基因突变是其致病因素。在这里，我们描述了一位 15 岁的患者，其可能由于涉及卵巢成熟的三个潜在致病性基因变体（）、（）和（）的相互作用而被诊断为性腺发育不良。我们还描述了在该先证者的家族中存在不同程度的残余卵巢功能，其女性成员携带一个到三个上述基因的已证实变异，其临床表型可能取决于涉及的等位基因数量。我们的结果支持这样一种假设，即先证者临床表现的严重程度导致完全的卵巢发育不良，可能是由于遗传基因突变的协同有害作用所致。
