Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; William Harvey Research Institute, Queen Mary University of London, UK.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.
Taiwan J Obstet Gynecol. 2023 Mar;62(2):336-342. doi: 10.1016/j.tjog.2022.11.014.
We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(4; 17) (q12; q11.2) and AZFa sY86 deletion in this case.
A 37-year-old married infertile male was referred for genetic studies of azoospermia. His height was 195 cm and his weight was 85 kg. He had been married for more than one year without any pregnancy in his wife. He was referred for genetic counseling. Cytogenetic analysis revealed a karyotype of 47,XXY,t(4; 17) (q12; q11.2). In addition to Klinefelter syndrome, a balanced reciprocal translocation and an AZFa microdeletion were found. Sequence analysis of SPINK2 and NOS was also performed. These two fertile related genes were located at the breakpoints of translocation respectively. Heterozygosity of single-nucleotide polymorphisms (SNPs) evidenced the presence of two alleles as well as no deletions occurred at the breakpoint regions. An AZF gene analysis revealed a microdeletion at the region of AZFa sY86 region.
Genetic analysis of an infertile male may detect multiple factors associated with azoospermia such as translocation, an AZF deletion and Klinefelter syndrome. This case emphasized the importance of tests for chromosomes and AZF deletions among patients with azoospermia. Complete genetic counseling of the consequence of a familial inheritance is also necessary to detect more family carrier members for the prevention of unbalanced chromosome in the offspring.
我们报告了一例偶然发现的患有克氏综合征的不育男性，该患者存在平衡易位 t(4;17)(q12;q11.2)和 AZFa 区 sY86 缺失。我们复习了文献，并讨论了 47,XXY、t(4;17)(q12;q11.2)和 AZFa 区 sY86 缺失在该病例中的意义。
一名 37 岁已婚不育男性因无精子症接受遗传研究。他的身高为 195cm，体重为 85kg。他结婚一年多，妻子未怀孕。他被转介进行遗传咨询。细胞遗传学分析显示核型为 47,XXY，t(4;17)(q12;q11.2)。除克氏综合征外，还发现了平衡易位和 AZFa 微缺失。还进行了 SPINK2 和 NOS 的序列分析。这两个与生育能力相关的基因分别位于易位的断点处。单核苷酸多态性（SNP）的杂合性证明存在两个等位基因，并且在断点区域没有缺失。AZF 基因分析显示 AZFa 区 sY86 区域存在微缺失。
不育男性的遗传分析可能会发现与无精子症相关的多个因素，如易位、AZF 缺失和克氏综合征。该病例强调了对无精子症患者进行染色体和 AZF 缺失检测的重要性。对家族遗传的后果进行全面的遗传咨询也是必要的，以便发现更多的家族携带者，以防止后代出现不平衡染色体。
