Intra-individual Genomic Variation in Tissues (Blood vs. Testis) Through SNP Microarray: A Case report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS)

Sharma, Aiyush; Halder, Ashutosh; Kaushal, Seema; Jain, Manish

doi:10.18502/jri.v21i4.4335

Intra-individual Genomic Variation in Tissues (Blood vs. Testis) Through SNP Microarray: A Case report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS)

Authors

Aiyush Sharma ¹

Ashutosh Halder ¹

Seema Kaushal ²

Manish Jain ¹

¹ Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India

² Department of Pathology, All India Institute of Medical Sciences, New Delhi, India

10.18502/jri.v21i4.4335

Abstract

Background: 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. Case Presentation: 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). Conclusion: 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.

Keywords

Copy number variations

Loss of heterozygosity

Sertoli cell only syndrome

Single Nucleotide Polymorphisms

Volume 21, Issue 4
Autumn 2020
Pages 298-307

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Journal of Reproduction & Infertility

Intra-individual Genomic Variation in Tissues (Blood vs. Testis) Through SNP Microarray: A Case report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS)

Volume 21, Issue 4Autumn 2020Pages 298-307

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Volume 21, Issue 4
Autumn 2020
Pages 298-307