ORIGINAL ARTICLE Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds L. Governini 1,2 , C. Guerranti 3 , V. De Leo 1,2 , L. Boschi 1,2 , A. Luddi 1,2 , M. Gori 1,2 , R. Orvieto 4 & P. Piomboni 1,2 1 Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy; 2 Center for Diagnosis and Treatment of Couple Sterility, S. Maria alle Scotte Hospital, Siena, Italy; 3 Department of Life Sciences, University of Siena, Siena, Italy; 4 Department of Obstetrics & Gynecology, Infertility & IVF Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel Keywords DNA fragmentation—FISH—male infertility— PFC contamination—TUNEL Correspondence Paola Piomboni, Department of Molecular and Developmental Medicine, University of Siena Center for the Diagnosis and Treat- ment of Couple Sterility - S. Maria alle Scotte Hospital, Viale Bracci - 53100 Siena, Italy. Tel/Fax: +39 0577 586632; E-mail: piomboni@unisi.it Accepted: September 1, 2014 doi: 10.1111/and.12371 Summary This study investigated chromosomal aneuploidies and DNA damage in spermatozoa from male patients contaminated by perfluorinated compounds (PFCs) in whole blood and seminal plasma. Sperm aneuploidy and diploidy rate for chromosomes 18, X and Y were evaluated by FISH; sperm DNA frag- mentation was assessed by terminal deoxynucleotidyl transferase-mediated dUTP nick end-labelling technique coupled to flow cytometry. Our results indicated that PFC contamination was present in 58% of subjects included in the study. A significant increase in alterations of sperm parameters was observed in PFC-positive subjects compared to PFC-negative subjects. As regards the sperm aneuploidy, both disomy and diploidy rates resulted significantly increased in subjects positive for PFC contamination compared to PFC-negative samples. In addition, sperm DNA fragmentation index resulted significantly increased in PFC-contaminated subjects compared to PFC-non- contaminated subjects, with a significant increased level of dimmer DNA fragmentation index. Our results clearly indicate that PFC contamination may detrimentally affect spermatogenesis, disturbing both meiotic segregation and DNA integrity. We could therefore suggest cautions to reduce or eliminate any contact with these compounds because the long-term effects of PFC accumula- tion in the body are not predictable. Introduction The increased exposure to environmental and industrial contaminants have been postulated to be responsible for the global decline in semen quality (Sharpe, 2001). Special attention has been raised concerning the endocrine disrupting chemicals (EDCs), which are hormonally active, synthetic or natural compounds affecting the nor- mal activity of the endocrine system and especially the reproductive endocrine axis (Piomboni et al., 2014). Among these, there are the perfluorinated compounds (PFCs), produced industrially by electrochemical fluorina- tion (Calafat et al., 2007). Perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA) are two of the better known PFCs, with special physicochemical roperties contributing to their stability and chemical and thermal inertia making them extremely heat resistant, as well as insoluble in water and oil (Park et al., 2001). These properties have led to their worldwide use as emulsifiers in cleaning products; as inert components in pesticides; food containers; nonstick frypans (commer- cially named ‘Teflon’, produced from PFOA); shampoos; toothpaste and so forth (Renner, 2001). Many animal and human studies have suggested the associations between exposure to PFC compounds and altered reproductive functions (Giesy & Kannan, 2001; Midasch et al., 2007). In our previous study, we suggested that human follicular fluids PFC contamina- tion may have a potential detrimental effect on oocytes fertilisation capacity (Governini et al., 2011). These molecules can also alter foetal development and may cause malformations and disabilities if exposure occurs © 2014 Blackwell Verlag GmbH 1 Andrologia 2014, xx, 1–8