The human TSPY (testis-specific protein, Y-linked) gene family (30-60 copies) is situated in the MSY (male-specific) region of the Y chromosome. Testis-specific expression indicates that the gene plays a role in spermatogenesis. Refined quantitative fluorescence PCR (polymerase chain reaction) was applied to evaluate the relative number of TSPY copies compared with AMELY/X (amelogenin gene, Y-linked) genes in 84 stratified infertile men and in 40 controls. A significantly higher number of TSPY copies was found in infertile men compared with the controls (P = 0.002). The diagnostic discrimination potential of the relative number of TSPY copies was evaluated by receiver operating characteristic curve analysis. TSPY/AMELY was unambiguously found to be powerful in the diagnostic separation of both the control samples and the infertile men, reaching a good level of specificity (0.642) and sensitivity (0.732) at a cut-off point of 0.46. The findings were supported by independently repeated studies of randomly selected positive samples and controls. Evaluation of the TSPY copy number offers a completely new diagnostic approach in relation to the genetic cause of male infertility. The possible effect of the copy number of TSPY genes on spermatogenesis may explain indiscrete pathological alterations of spermatid quality and quantity.

Background. Monozygotic twinning is associated with increased perinatal morbidity and mortality. There is evidence that the number of monozygotic twins increases after assisted reproductive techniques. Methods. We searched PUBMED, MEDLINE, and Scopus from 1987 to 2015 for studies analyzing the incidence and possible etiology of monozygotic twinning in infertility patients and critically reviewed the current state of knowledge. Results and Conclusions. Monozygotic twinning is a rare in natural conception but occurs around twice the normal rate after assisted reproduction. Factors associated with this phenomenon remain speculative, though there is some evidence that micromanipulation techniques, prolonged culture, and genetics are involved. In view of the possible complications, adequate pre-conception counselling is advocated.

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Objective To establish the prevalence of risk factors for aortic dissection, such as bicuspid aortic valve, aortic coarctation and ascending aorta dilatation, in women with

The aim of this study was to evaluate if cytoplasmic transfer can improve fertilization and embryo quality of women with oocytes of low quality. During ICSI, 10–15% of the cytoplasm from a fresh or frozen young donor oocyte was added to the recipient oocyte. According to the embryo quality, we defined group A as patients in which the best embryo was evident after cytoplasmic transfer and group B as patients in which the best embryo was evident after a simple ICSI. We investigated in the period of 2002–2018, 125 in vitro fertilization cycles involving 1011 fertilized oocytes. Five hundred fifty-seven sibling oocytes were fertilized using ICSI only and 454 oocytes with cytoplasmic transfer. Fertilization rates of oocytes were 67.2% in the cytoplasmic transfer and 53.5% in the ICSI groups (P < 0.001). A reduction in fertilization rate was observed with increased women age in the ICSI but not in the cytoplasmic transfer groups. The best embryo quality was found after cytoplasmic transfer in 78 cycles (62.4%) and without cytoplasmic transfer in 40 cycles (32%, P < 0.001). No significant differences were detected between the age, hormonal levels, dose of stimulation drugs, number of transferred embryos, pregnancy rate and abortion rate between A and B groups. Cytoplasmic transfer improves fertilization rates and early embryo development in humans with low oocyte quality. All 28 children resulting from cytoplasmic transfer are healthy.