Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

• Published in: Journal of assisted reproduction and genetics Vol. 31; no. 9; pp. 1167 - 1174
• Main Authors: Ghedir, H., Mehri, A., Mehdi, M, Brahem, S, Saad, A., Ibala-Romdhane, S.
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.09.2014; Springer Nature B.V
• Subjects: Adult; Aneuploidy; Asthenozoospermia - genetics; Asthenozoospermia - pathology; Chromosome Segregation; Defects; DNA Fragmentation; Gamete Biology; Gynecology; Human Genetics; Humans; Hybridization; In Situ Nick-End Labeling; Infertility; Kinases; Male; Medicine; Medicine & Public Health; Meiosis; Morphology; Patients; Proteins; Reproductive Medicine; Sex chromosomes; Sperm; Spermatozoa - abnormalities; Spermatozoa - ultrastructure; Tunisia; Tunisia; Dysplasia of the fibrous sheath; Aneuploidy; Akinozoospermia; DNA fragmentation
• ISSN: 1058-0468; 1573-7330
• DOI: 10.1007/s10815-014-0290-4

Purpose Dysplasia of the Fibrous Sheath (DFS) is a primitive flagellar pathology for which a broad spectrum of ultrastructural flagellar abnormalities has been described responsible for a severe to total asthenozoospermia. To this phenotype other morphological abnormalities including cephalic and abnormalities in nuclear structure can be associated that could compromise embryonic development in case of use of Assisted Reproductive Technology (ART). The aim of this study was to evaluate the level of DNA fragmentation and aneuploidy rate in ejaculated spermatozoa of Tunisian men presented with DFS sperm defect associated to high percentage of head abnormalities and to compare the results with those from fertile men. Methods Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase mediated deoxyuridine triphosphate biotin nick-end labelling (TUNEL) assay. The study of meiotic segregation was performed by Fluorescence in situ hybridization (FISH) for chromosomes X, Y and 18. Results The mean DNA fragmentation index was significantly higher in patients compared to the control group. FISH revealed a significantly higher incidence of sperm aneuploidies compared with controls. All patients showed elevated frequencies of sex chromosomes disomy, disomy 18 and diploidy. Conclusions In some cases of syndromic teratozoospermia due to sperm tail structural abnormalities, such as DFS, other morphological cephalic abnormalities may be associated. In these cases we have demonstrated impaired sperm nuclear quality which will affect the results in ICSI. Hence the interest of a thorough study of the sperm nucleus in these forms of infertility in order to predict the chances of success in ART.