PMID- 20579639 OWN - NLM STAT- MEDLINE DCOM- 20110121 LR - 20101220 IS - 1556-5653 (Electronic) IS - 0015-0282 (Linking) VI - 95 IP - 1 DP - 2011 Jan TI - A case of severe asthenozoospermia: a novel sperm tail defect of possible genetic origin identified by electron microscopy and immunocytochemistry. PG - 289.e11-6 LID - 10.1016/j.fertnstert.2010.05.029 [doi] AB - OBJECTIVE: To characterize a novel flagellar defect involving 98% of sperm tails. DESIGN: Case report. SETTING: Interdepartmental Centre for Research and Therapy of Male Infertility, Siena, Italy. PATIENT(S): A 45-year-old infertile man with severe asthenozoospermia. INTERVENTION(S): Family history, physical examination, hormonal analysis, microbial assays, semen analysis, transmission and scanning electron microscopy, tubulin distribution investigated by immunocytochemistry, fluorescence in situ hybridization (FISH) for chromosomes 9, 16, 18, X, and Y. MAIN OUTCOME MEASURE(S): Flagellar abnormalities detected by microscopical methods. RESULT(S): An apparent heterogeneity was observed: extremely elongated tails prone to ruptures; coiled tails at different levels with a strongly rolled axoneme or with a curl in the final flagellar segment; and V-shaped, isolated, bent tails. Transmission electron microscopy revealed the presence of normal heads, disorganized flagellar structures, and dynein deficiency. The FISH analysis was normal. CONCLUSION(S): We report a new sperm defect, characterized by abnormal elongation of the tail, which was prone to ruptures at different levels, concomitant with coiled tails, which were impossible to measure in length. This defect remained constant in different examined ejaculates and applied to the entire sperm population of a sterile man, the son of first-degree cousins, indicating a potential genetic origin. CI - Copyright (c) 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Collodel, Giulia AU - Collodel G AD - Interdepartmental Centre for Research and Therapy of Male Infertility, Department of Biomedical Sciences, Applied Biology Section, University of Siena, Siena, Italy. collodel@unisi.it FAU - Federico, Maria Grazia AU - Federico MG FAU - Pascarelli, Nicola Antonio AU - Pascarelli NA FAU - Geminiani, Michela AU - Geminiani M FAU - Renieri, Tommaso AU - Renieri T FAU - Moretti, Elena AU - Moretti E LA - eng PT - Case Reports PT - Journal Article DEP - 20100625 PL - United States TA - Fertil Steril JT - Fertility and sterility JID - 0372772 SB - IM MH - Asthenozoospermia/*genetics/*pathology MH - Chromosomes, Human, Pair 16 MH - Chromosomes, Human, Pair 18 MH - Chromosomes, Human, Pair 9 MH - Chromosomes, Human, X MH - Chromosomes, Human, Y MH - Diploidy MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Male MH - Microscopy, Electron, Scanning MH - Microscopy, Electron, Transmission MH - Middle Aged MH - Severity of Illness Index MH - Sperm Tail/*pathology/*ultrastructure EDAT- 2010/06/29 06:00 MHDA- 2011/01/22 06:00 CRDT- 2010/06/29 06:00 PHST- 2010/03/12 00:00 [received] PHST- 2010/04/29 00:00 [revised] PHST- 2010/05/04 00:00 [accepted] PHST- 2010/06/29 06:00 [entrez] PHST- 2010/06/29 06:00 [pubmed] PHST- 2011/01/22 06:00 [medline] AID - S0015-0282(10)00819-8 [pii] AID - 10.1016/j.fertnstert.2010.05.029 [doi] PST - ppublish SO - Fertil Steril. 2011 Jan;95(1):289.e11-6. doi: 10.1016/j.fertnstert.2010.05.029. Epub 2010 Jun 25.