Kawamura Shun, Chiba Koji, Yamashita Yosuke, Sato Katsuya, Kaku Yasuhiro, Hara Takuto, Okada Keisuke, Miyake Hideaki
Division of Urology, Department of Surgery, Kobe University Graduate School of Medicine, Hyogo, JPN.
Cureus. 2024 Apr 18;16(4):e58558. doi: 10.7759/cureus.58558. eCollection 2024 Apr.
Premature chromatid separation (PCS)/mosaic variegated aneuploidy (MVA) syndrome is a rare chromosome instability syndrome. This syndrome is inherited in an autosomal recessive pattern. Although heterozygous carriers of a monoallelic mutation reportedly have a normal phenotype, PCS-positive cells are found at a higher rate in such carriers than in the general population. We herein report a case in which a PCS carrier was incidentally diagnosed during investigation of male infertility. A diagnosis of nonobstructive azoospermia was made, and chromosome analysis revealed the PCS trait in 81 of 200 cells (40.5%), indicating that the patient was a PCS carrier. PCS carriers are not uncommon, and if both members of a couple are carriers, there would be a 25% likelihood of the child presenting with PCS syndrome. Therefore, a clinical psychological approach that includes genetic counseling should be considered before proceeding to microsurgical testicular sperm extraction.
早熟染色单体分离（PCS）/嵌合性杂色非整倍体（MVA）综合征是一种罕见的染色体不稳定综合征。该综合征以常染色体隐性模式遗传。虽然据报道单等位基因突变的杂合携带者具有正常表型，但在此类携带者中发现PCS阳性细胞的比例高于一般人群。我们在此报告一例在男性不育症调查期间偶然诊断出的PCS携带者病例。诊断为非梗阻性无精子症，染色体分析显示200个细胞中有81个（40.5%）具有PCS特征，表明该患者为PCS携带者。PCS携带者并不罕见，如果夫妻双方都是携带者，孩子患PCS综合征的可能性为25%。因此，在进行显微外科睾丸精子提取之前，应考虑采用包括遗传咨询在内的临床心理方法。
