Anne Mayeur1, Naouel Ahdad2, Laetitia Hesters3, Sophie Brisset4, Serge Romana5, Lucie Tosca4, Gérard Tachdjian4, Nelly Frydman3. 1. AP-HP, Reproductive Biology Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, Clamart 92140, France. Electronic address: anne.mayeur@aphp.fr. 2. AP-HP, Reproductive Medicine Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, Clamart 92140, France. 3. AP-HP, Reproductive Biology Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, Clamart 92140, France. 4. AP-HP, Cytogenetic Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, Clamart 92140, France. 5. AP-HP, Cytogenetic Unit, Paris Descartes University, Necker-Enfants-Malades Hospital, Paris 75015, France.
Abstract
RESEARCH QUESTION: Chromosomal translocations are known genetic causes of male infertility. Are certain translocations or chromosomal regions more directly associated with sperm defects? Is there a threshold of sperm impairment that can be relevant for detection of translocations? DESIGN: This is a monocentric retrospective observational study covering a 10-year period. Eighty-one patients carrying a reciprocal translocation (RCT) and 63 carrying a Robertsonian translocation (ROBT) were compared with 105 fertile patients. Semen quality before and after sperm migration was compared. The aims were to define whether a threshold based on sperm analysis could be proposed for detection of translocations and to identify whether some redundant chromosomal regions might be associated with sperm quality defects. RESULTS: The number of progressive spermatozoa retrieved after sperm preparation (NPS-ASP) was altered in both RCT and ROBT carriers compared with controls, with a stronger alteration in ROBT. Based on the NPS-ASP results in this large group of translocation carriers, a relatively robust threshold, fixed at less than 5 million, may be proposed for detection of translocations. The alteration of NPS-ASP was independent of the chromosome involved in ROBT, while in RCT, four redundant chromosomal regions (1q21, 6p21, 16q21, 17q11.2) were associated with poor or very poor NPS-ASP. CONCLUSIONS: The NPS-ASP appears to be a good parameter to assess sperm function and would be a useful tool to detect chromosomal translocations. Four redundant regions have been identified on four chromosomes, suggesting that they may contain genes of interest to study sperm functions. Published by Elsevier Ltd.
RESEARCH QUESTION: Chromosomal translocations are known genetic causes of male infertility. Are certain translocations or chromosomal regions more directly associated with sperm defects? Is there a threshold of sperm impairment that can be relevant for detection of translocations? DESIGN: This is a monocentric retrospective observational study covering a 10-year period. Eighty-one patients carrying a reciprocal translocation (RCT) and 63 carrying a Robertsonian translocation (ROBT) were compared with 105 fertile patients. Semen quality before and after sperm migration was compared. The aims were to define whether a threshold based on sperm analysis could be proposed for detection of translocations and to identify whether some redundant chromosomal regions might be associated with sperm quality defects. RESULTS: The number of progressive spermatozoa retrieved after sperm preparation (NPS-ASP) was altered in both RCT and ROBT carriers compared with controls, with a stronger alteration in ROBT. Based on the NPS-ASP results in this large group of translocation carriers, a relatively robust threshold, fixed at less than 5 million, may be proposed for detection of translocations. The alteration of NPS-ASP was independent of the chromosome involved in ROBT, while in RCT, four redundant chromosomal regions (1q21, 6p21, 16q21, 17q11.2) were associated with poor or very poor NPS-ASP. CONCLUSIONS: The NPS-ASP appears to be a good parameter to assess sperm function and would be a useful tool to detect chromosomal translocations. Four redundant regions have been identified on four chromosomes, suggesting that they may contain genes of interest to study sperm functions. Published by Elsevier Ltd.
Entities:
Keywords:
Chromosomal translocation; Karyotype; Male infertility; Semen quality
Authors: Maria Clara Bonaglia; Sara Bertuzzo; Anna Maria Ciaschini; Giancarlo Discepoli; Lucia Castiglia; Romina Romaniello; Orsetta Zuffardi; Marco Fichera Journal: Mol Cytogenet Date: 2020-06-11 Impact factor: 2.009