title: Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
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.
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Katrien
authors.initials: K
authors.lastname: Stouffs
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gheldof
authors.affiliation: Center for Reproductive Medicine/Biology of the Testis, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Herman
authors.initials: H
authors.lastname: Tournaye
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Deborah
authors.initials: D
authors.lastname: Vandermaelen
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Maryse
authors.initials: M
authors.lastname: Bonduelle
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.affiliation: Center for Medical Genetics/Research Center Reproduction and Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D054331:Sertoli Cell-Only Syndrome / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D012708:Sertoli Cells / Q000473:pathology; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000473:pathology