Sharma Aiyush, Halder Ashutosh, Kaushal Seema, Jain Manish
Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India.
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
J Reprod Infertil. 2020 Oct-Dec;21(4):298-307. doi: 10.18502/jri.v21i4.4325.
Sertoli cell only syndrome (SCOS) or germ cell aplasia is characterized by the existence of only sertoli cells in the seminiferous tubule without any germ cells. SCOS is a multifactorial disorder but genetic factors play a major role in pathogenesis of idiopathic SCOS.
Two cases of idiopathic SCOS had been reported with no non-genetic factor in their medical history that could play a role in aetiology of SCOS. Also, two normal fertile males were recruited as controls in this study. For evaluation of genomic imbalance, karyotyping (G-banding), FISH, STS-PCR and SNP microarray were carried out. SNP microarray was carried out in DNA of peripheral blood for cases as well as controls. However, for cases, SNP microarray was conducted in DNA of testicular Fine needle aspiration cytology (FNAC).
No chromosome abnormality and Yq microdeletion was found in cases as well as in controls. Microarray detected many CNVs and LOH that cover genes with spermatogenesis related function and PAR CNVs in both cases. Differential genomic variations were found in blood and testis for cases. Therefore, the evaluation of pathogenesis of idiopathic SCOS might be dependent on both tissue samples. The evaluation of genomic imbalances at both tissue levels should be done for a large cohort of patients.
支持细胞仅存综合征（SCOS）或生殖细胞发育不全的特征是生精小管中仅存在支持细胞，而无任何生殖细胞。SCOS是一种多因素疾病，但遗传因素在特发性SCOS的发病机制中起主要作用。
报告了两例特发性SCOS病例，其病史中无任何可能在SCOS病因学中起作用的非遗传因素。此外，本研究招募了两名正常可育男性作为对照。为评估基因组失衡，进行了核型分析（G显带）、荧光原位杂交（FISH）、序列特异性引物聚合酶链反应（STS-PCR）和单核苷酸多态性微阵列分析。病例组和对照组均对外周血DNA进行了单核苷酸多态性微阵列分析。然而，病例组还对睾丸细针穿刺抽吸细胞学（FNAC）DNA进行了单核苷酸多态性微阵列分析。
病例组和对照组均未发现染色体异常和Y染色体长臂微缺失。微阵列分析在两例病例中均检测到许多覆盖具有精子发生相关功能基因的拷贝数变异（CNV）和杂合性缺失（LOH）以及PAR区域CNV。病例组血液和睾丸中发现了不同的基因组变异。因此，特发性SCOS发病机制的评估可能依赖于两种组织样本。应对大量患者进行两种组织水平的基因组失衡评估。
