title: Transmission of male infertility and intracytoplasmic sperm injection (mini-review).
abstract: The fact that genetic aetiology is responsible for approximately one third of all kinds of male sterility has led to concerns regarding the application of artificial reproductive technologies in the cases of azoospermia and severe oligozoospermia. Congenital sterility could be caused by gene mutation, quantitative or structural abnormality of sexual chromosomes or autosomes. The possibility of inherited transmission of male sterility within the context of applying artificial reproductive technologies is analysed in the article. Klinefelter's syndrome, mutation of cystic fibrosis transmembrane conductance regulator (CFTR) gene, which causes cystic fibrosis, and mutation of azoospermia factor zone (AZF) of Y-chromosome are among the most frequent genetic causes of severe oligozoospermia and azoospermia. The probability of a mutation of the CFTR gene being transmitted to the next generation is 50%. The probability of inherit transmission of Klinefelter's syndrome of mosaic karyotype could reach 70%. The probability of transmission of AZF mutation to children of male sex, generated with ICSI, is 100%. The percent of men with AZF mutation among users of ICSI centers, ranges from 3.2% to 14%. It means that at least 3.2 % of all boys conceived with ICSI will be sterile because of mutation in the AZF zone of Y-chromosome. It should be noted that genetic analysis and counselling do not always occur before the beginning of artificial fertilization cycles. Parents-to-be do not always have an opportunity to learn about the genetic risks of their unborn child and make any subsequent and responsible decisions. Among the decisions is a choice of not resorting to ART, but to live with the infertility and explore other opportunities for parenthood. Responsibility for high risk of conceiving a child with genetic anomalies rests not only with the parents, but also with all of society, including those responsible for research, technology, and legislation, in the health care profession.
authors.affiliation: Institute of Bioethics, Catholic University of Sacred Heart, Roma, Italy.
authors.forename: Z A
authors.initials: ZA
authors.lastname: Serebrovska
authors.forename: T V
authors.initials: TV
authors.lastname: Serebrovskaya
authors.forename: R L
authors.initials: RL
authors.lastname: Pyle
authors.forename: M L
authors.initials: ML
authors.lastname: Di Pietro
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000151:congenital* / Q000196:embryology / Q000235:genetics; D008297:Male; D012729:Sex Chromosome Aberrations / Q000196:embryology; D020554:Sperm Injections, Intracytoplasmic