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. 2016:2016:6191307.
doi: 10.1155/2016/6191307. Epub 2016 Jan 26.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

Katrien Stouffs  1 , Alexander Gheldof  1 , Herman Tournaye  2 , Deborah Vandermaelen  1 , Maryse Bonduelle  1 , Willy Lissens  1 , Sara Seneca  1
Affiliations

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

Katrien Stouffs et al. Biomed Res Int. 2016.

Abstract

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.

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Figures

Figure 1
Figure 1
Overview of the patient selection.
Figure 2
Figure 2
The average number of copy number variations per chromosome (CNVs) detected in the patient and control group before and after the removal of recurrent CNVs (i.e., CNVs that are detected in patients as well as in controls). The results do not differ between the two groups.
See this image and copyright information in PMC

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