Abstract：
This case report elucidates a scenario involving two sibling sisters born out of consanguineous marriage-one initially presenting with lower respiratory infection, concurrently exhibiting short stature and primary amenorrhoea. Investigation into the primary amenorrhoea unveiled hypergonadotropic hypogonadism, confirmed by the absence of ovaries and a hypoplastic uterus on pelvic MRI. Genetic analysis via whole exome sequencing identified a homozygous variant NM_001282717.2: c.808C>T in the MCM8 gene, located on exon 8 of chromosome 20, inherited in an autosomal recessive manner. The scarcity of primary ovarian insufficiency cases linked to MCM8 highlights the necessity of thoroughly investigating the genetic and clinical consequences of such variants.
摘要：
此病例报告阐明了涉及两个因近亲婚姻而出生的兄弟姐妹的情况，其中一个最初患有下呼吸道感染。同时表现出身材矮小和原发性闭经。对原发性闭经的调查揭示了高促性腺激素性腺功能减退症，通过盆腔MRI检查证实卵巢和子宫发育不全。通过全外显子组测序进行的遗传分析确定了MCM8基因中的纯合变体NM_001282717.2：c.808C>T，位于20号染色体的外显子8，以常染色体隐性方式遗传。与MCM8相关的原发性卵巢功能不全病例的稀缺性凸显了彻底调查此类变异的遗传和临床后果的必要性。
