Stouffs Katrien, Gheldof Alexander, Tournaye Herman, Vandermaelen Deborah, Bonduelle Maryse, Lissens Willy, Seneca Sara
Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
Center for Reproductive Medicine/Biology of the Testis, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26.
Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group), the sex chromosomes are involved. The majority of patients had a Klinefelter syndrome, followed by patients with Yq microdeletions. Array comparative genomic hybridization in a selected group of "idiopathic patients" showed no known infertility related copy number variations.
唯支持细胞综合征的定义是睾丸组织中完全不存在生殖细胞，并且总是导致男性不育。其病因通常仍不明确。在本文中，我们研究了唯支持细胞综合征的可能病因，特别关注遗传因素。我们的结果表明，在很大一部分患者中（未筛选组中超过23%），性染色体存在问题。大多数患者患有克兰费尔特综合征，其次是Yq微缺失患者。对一组“特发性患者”进行的阵列比较基因组杂交显示，未发现已知的与不育相关的拷贝数变异。
