Samenvatting
Objective: This study aims at characterizing the etiology of Sertoli cell-only syndrome (SCOS), with a special attention for the genetic causes.
Design: 101 Caucasians with SCOS were selected for whom no acquired causes of male infertility were reported and for whom results from karyotype analyses were available.
Materials and Methods: Yq microdeletion screening, array comparative genomic hybridization for the detection of copy number variations (CNV) and Sanger sequencing for candidate SCOS genes were performed.
Results: 29 abnormal karyotypes were present (29%): all were 47,XXY or mosaic 46,XY/47,XXY except one patient with 46,X,der(X)t(Xp;Yp). For 51 patients with a normal karyotype, DNA was available, allowing us to identify 4 patients (8%) with a Yq microdeletion.
For a more detailed genetic study, we selected 11 patients with a 'completely' idiopathic SCOS. A total of 283 CNVs were detected in the patient group of which 3 CNVs were potentially causal (one deletion and two duplications). Besides this array CGH analysis, also 6 genes were sequenced for these patients. Multiple alterations were detected, but the majority of these variations were also detected in the control group. Two substitutions were examined at the functional level after which it was concluded that these are presumably neutral variants.
Conclusions: At this moment, Klinefelter syndrome should be considered as the most frequently detected cause of SCOS. CNVs could be potentially related to SCOS, but probably for a very limited number of patients. Moreover, the clinical relevance of the observed CNVs remains unknown. More 'in depth' studies such as whole exome sequencing are recommended.
Support: Wetenschappelijk Fonds Willy Gepts (UZ Brussel); Vrije Universiteit Brussel
Design: 101 Caucasians with SCOS were selected for whom no acquired causes of male infertility were reported and for whom results from karyotype analyses were available.
Materials and Methods: Yq microdeletion screening, array comparative genomic hybridization for the detection of copy number variations (CNV) and Sanger sequencing for candidate SCOS genes were performed.
Results: 29 abnormal karyotypes were present (29%): all were 47,XXY or mosaic 46,XY/47,XXY except one patient with 46,X,der(X)t(Xp;Yp). For 51 patients with a normal karyotype, DNA was available, allowing us to identify 4 patients (8%) with a Yq microdeletion.
For a more detailed genetic study, we selected 11 patients with a 'completely' idiopathic SCOS. A total of 283 CNVs were detected in the patient group of which 3 CNVs were potentially causal (one deletion and two duplications). Besides this array CGH analysis, also 6 genes were sequenced for these patients. Multiple alterations were detected, but the majority of these variations were also detected in the control group. Two substitutions were examined at the functional level after which it was concluded that these are presumably neutral variants.
Conclusions: At this moment, Klinefelter syndrome should be considered as the most frequently detected cause of SCOS. CNVs could be potentially related to SCOS, but probably for a very limited number of patients. Moreover, the clinical relevance of the observed CNVs remains unknown. More 'in depth' studies such as whole exome sequencing are recommended.
Support: Wetenschappelijk Fonds Willy Gepts (UZ Brussel); Vrije Universiteit Brussel
| Originele taal-2 | English |
|---|---|
| Titel | Florence-Utah International Symposium Genetics of Male Infertility |
| Pagina's | 5 |
| Aantal pagina's | 1 |
| Status | Published - 19 sep 2013 |
| Evenement | Unknown - Duur: 19 sep 2013 → … |
Conference
| Conference | Unknown |
|---|---|
| Periode | 19/09/13 → … |