External and Genetic Conditions Determining Male Infertility.

We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator CFTR gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted in azoospermia DAZ gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.

International journal of molecular sciences. 2020 Jul 24*** epublish ***

Piotr Kamiński, Jędrzej Baszyński, Izabela Jerzak, Brendan P Kavanagh, Ewa Nowacka-Chiari, Mateusz Polanin, Marek Szymański, Alina Woźniak, Wojciech Kozera

University of Zielona Góra, Institute of Biological Sciences, Department of Biotechnology, Prof. Szafran St. 1, PL 65-516 Zielona Góra, Poland., Nicolaus Copernicus University in Toruń, Collegium Medicum in Bydgoszcz, Faculty of Medicine, Department of Medical Biology and Biochemistry, Department of Ecology and Environmental Protection, M. Skłodowska-Curie St. 9, PL 85-094 Bydgoszcz, Poland., University of Zielona Góra, Collegium Medicum, Department of Pharmacology and Toxicology, Zyta St. 28, PL 65-046 Zielona Góra, Poland., RCSI Biology, Royal College of Surgeons in Ireland, 123 St. Stephen's Green, Dublin 2, D02 YN77 Dublin, Ireland., University of Zielona Góra, Institute of Biological Sciences, Department of Sport Promotion, Prof. Szafran St. 1, PL 65-516 Zielona Góra, Poland., Karol Marcinkowski University Hospital in Zielona Góra, Zyta St. 26, PL 65-045 Zielona Góra, Poland., Nicolaus Copernicus University in Toruń, Collegium Medicum in Bydgoszcz, Faculty of Medicine, University Hospital No. 2, Department of Obstetrics, Female Pathology and Oncological Gynecology, Ujejski St. 75, PL 85-168 Bydgoszcz, Poland., Nicolaus Copernicus University in Toruń, Collegium Medicum in Bydgoszcz, Faculty of Medicine, Department of Medical Biology and Biochemistry, Karłowicz St. 24, PL 85-092 Bydgoszcz, Poland., UTP University of Science and Technology in Bydgoszcz, Faculty of Agriculture and Biotechnology, Department of Agricultural Chemistry, Seminaryjna St. 5, PL 85-326 Bydgoszcz, Poland.