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At least 55 records · Page 3Linked to original sources
PubMed1987

Animal models of physiologic markers of male reproduction: genetically defined infertile mice.

The present report focuses on novel animal models of male infertility: genetically defined mice bearing single-gene mutations that induce infertility. The primary goal of our investigations was to identify the reproductive defects in these mutant mice. The phenotypic effects of the gene mutations were deciphered by comparing the mutant mice to their normal siblings. Initially testicular steroidogenesis and spermatogenesis were investigated. The physiologic markers for testicular steroidogenesis were steroid secretion by testes perifused in vitro, seminal vesicle weight, and Leydig cell histology. Spermatogenesis was evaluated by the enumeration of homogenization-resistant sperm/spermatids in testes and by morphometric analyses of germ cells in the seminiferous epithelium. If testicular function appeared normal, we investigated the sexual behavior of the mice. The parameters of male sexual behavior that were quantified included mount patency, mount frequency, intromission latency, thrusts per intromission, ejaculation latency, and ejaculation duration. Females of pairs breeding under normal circumstances were monitored for the presence of vaginal plugs and pregnancies. The patency of the ejaculatory process was determined by quantifying sperm in the female reproductive tract after sexual behavior tests. Sperm function was studied by quantitatively determining sperm motility during videomicroscopic observation. Also, the ability of epididymal sperm to function within the uterine environment was analyzed by determining sperm capacity to initiate pregnancy after artificial insemination. Together, the experimental results permitted the grouping of the gene mutations into three general categories. We propose that the same biological markers used in the reported studies can be implemented in the assessment of the impact that environmental toxins may have on male reproduction.

Animals↗
PubMed1988

Reproductive, genetic, and dietary risk factors for ovarian cancer.

A case-control study of 110 women with ovarian epithelial carcinoma and 220 individually age-matched controls was conducted in Hokkaido, Japan, to identify ovarian cancer risk factors. Both the cases and the matched controls were surveyed either from 1980 to 1981 or from 1985 to 1986. Ovarian cancer risk was increased in single women (p less than 0.01), and in women with a family history of breast, uterine, or ovarian cancer in a mother or sister (p less than 0.001). Conversely, risk was decreased in women who had experienced a livebirth (p less than 0.001), an induced abortion (p less than 0.05), or who had had permanent sterilization by tubal ligation (p less than 0.05). Each of the reproductive factors remained significant when adjusted for each other using logistic regression analysis. The odds ratio for ovarian cancer decreased significantly with increasing number of livebirths (p less than 0.001). Furthermore, a significant negative association between anovulatory periods and ovarian cancer risk was noted (p less than 0.01). No association was observed for any types of contraceptive methods other than tubal ligation, but the prevalence of oral contraceptive use was very low. A significant positive association with daily fish consumption (p less than 0.05) and a marginally significant negative association with daily milk consumption (p = 0.05) were also observed.

Diet↗
PubMed2005

Sperm and blastomere aneuploidy detection in reproductive genetics and medicine.

The use of multiple probes in fluorescence in situ hybridization (FISH) permits the simultaneous analysis of several chromosomes in both blastomeres and spermatozoa. Preimplantation genetic diagnosis (PGD) for aneuploidy provides information on embryonic chromosomal status, enabling the selection of embryos carrying aneuploid condition. This strategy directly affects implantation, as documented for patients with a poor prognosis for pregnancy, who have the tendency to generate high proportions of chromosomally abnormal embryos. PGD for aneuploidy also has contributed information on early phases in human embryology by clarifying the molecular basis in some cases of irregular development. Multicolor FISH has also been used to study chromosomes on spermatozoa. Experimental strategies and modifications enabled the analysis of samples with a very low number of sperm cells, including samples retrieved from the genital tract or directly from the testicular tissue. The results confirmed that the incidence of aneuploidy increases proportionally with the severity of the male-factor condition. This observation suggests that, in selected cases, the paternal contribution to aneuploidy in the developing conceptus could be more relevant than expected from general data from aborted fetuses and live births.

Adult↗
PubMed2002

[Medical genetics in reproductive medicine].

Reproductive genetics (RG) is another new field of medical genetics, integrated with reproductive medicine, assisted reproduction and developmental genetic. RG is closely linked to the perioconceptional prevention, perinatology, ultrasound and biochemical screening in the end of the first and beginning of the second trimesters. RG is based on the system of specialized genetic counseling, clinical cytogenetics, molecular cytogenetics and molecular genetics to provide prefertilization, preimplantation and classical prenatal diagnosis in the Ist to IIIrd trimesters. Thus, RG is part of the fetal medicine and therapy. The six years experience with RG is summarized. A system of the specialized health care, organized, if possible in one integrated center of RG and reproductive medicine (RM) is presented. Reproductive medicine provides all necessary clinical gynecological and andrological surveillance, with assisted reproduction and further obstetrical ultrasound examinations, including nuchal translucency measurements and 2D, 3D ultrasound, echocardiography examinations, if indicated, as well as the invasive method of prenatal diagnosis and perinatology care. Specialized genetic counseling and cytogenetic analysis, if indicated, should be offered to all partners with reproductive disorders as well as to oocyte donors. Chromosome anomalies are disclosed in 6% of men with abnormal sperm analysis as well as in women with severe reproductive disorders. In males with severe oligo, azoospermia, the sperm aneuploidy analysis by molecular cytogenetic methods is recommended. Advised is also the molecular genetic detection of Y chromosome microdeletions, which is detected in 9% of our azoospermic men with deletions in AZFb region. CFTR gene mutations and intron 8 and 10 polymorphism examination is provided not only in men with obstructive azoospermia (CBAVD), but also if severe oligospermy with less than 1 x 10(6) sperm/ml is detected. Molecular genetic analysis of thrombophilic mutations of factor II., V. (Leiden) and MTHFR gene in unexplained recurrent abortions and in cases with unsuccessful IVF is part of the diagnostic strategy. The population frequencies of carriers of mutations of factor II. (2.3%), factor V.-Leiden (5.7%) and MTHFR gene (38%) were determined. The laser biopsy of the first polar body and of blastomeres was introduced for FISH analysis of chromosome aneuploidies. Quantitative fluorescent PCR (QFPCR) detection is used for testing of the most frequent delta F508 CFTR gene mutation and the most frequent aneuploidies of chromosome 13, 18, 21, X and Y. QFPCR was successfully tested for male fetal sex examination from partially purified fetal cells in the maternal blood. The first trimester ultrasound and biochemical screening is recommended to all successful pregnancies after different IVF methods. If borderline levels of first trimester biochemical screening of PAPP-A protein and beta hCG are detected without pathological ultrasound findings, classical triple test of biochemical screening in 16th week of gestation is recommended. If pathological results of ultrasound and biochemical screening are disclosed, invasive prenatal genetic diagnosis is indicated as well as in pregnancies after ICSL, if there is not any obstetrical contraindication.

Chromosome Disorders↗
PubMedDate not supplied

Women as body parts in the era of reproductive and genetic engineering.

Reproductive and genetic engineering are presented by their promoters as miracle cures for people with infertility problems or who are at genetic risk in having their desired healthy child. Focusing on the test-tube baby method (in vitro fertilization), in this article I investigate the medical reality of these technologies and their impact on women's lives as individuals and as members of a social group, women. Specifically, I discuss these developments in a global context and suggest that, in connection with fertility-control methods, they could be used as the ultimate means of population control. I contend that reproductive and genetic engineering dismember, fragment, and dissect women into their body parts and that, in the interests of women with a right to bodily integrity and dignity, they need to be stopped.

Female↗
PubMed2006

The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology.

Infertility and reproductive genetic risk are both increasing in our societies because of lifestyle changes and possibly environmental factors. Owing to the magnitude of the problem, they have implications not only at the individual and family levels but also at the community level. This leads to an increasing demand for access to assisted reproduction technology (ART) and genetic services, especially when the cause of infertility may be genetic in origin. The increasing application of genetics in reproductive medicine and vice versa requires closer collaboration between the two disciplines. ART and genetics are rapidly evolving fields where new technologies are currently introduced without sufficient knowledge of their potential long-term effects. As for any medical procedures, there are possible unexpected effects which need to be envisaged to make sure that the balance between benefits and risks is clearly on the benefit side. The development of ART and genetics as scientific activities is creating an opportunity to understand the early stages of human development, which is leading to new and challenging findings/knowledge. However, there are opinions against investigating the early stages of development in humans who deserve respect and attention. For all these reasons, these two societies, European Society of Human Genetics (ESHG) and European Society of Human Reproduction and Embryology (ESHRE), have joined efforts to explore the issues at stake and to set up recommendations to maximize the benefit for the couples in need and for the community.

Journal Article↗
PubMed1997

Genetic factors in reproduction and their evolutionary significance.

PROBLEM: The reproductive process is a major driving force in human evolution. An evolutionary perspective was brought to bear on some aspects of reproduction and its aberrations, and, conversely, some of the insights of modern reproductive genetics were used to investigate problems in evolution. METHOD: The data used were obtained from the literature in evolution, anthropology, archeology, linguistics, and genetics. RESULTS: The evolutionary line leading to modern humans diverged from that leading to the chimpanzees approximately 5-7 million years ago (Mya). Archaic Homo sapiens emerged ca. 0.3 Mya, and modern Homo sapiens and the development of language ca. 0.1 Mya; thus, modern humans occupy approximately 2% of the evolutionary history of the hominid line. During all of this time, the ancestors of modern humans were migratory hunter-gatherers. It was only during the Neolithic transition ca. 0.01 Mya (approximately 0.2% of hominid evolutionary history) that agriculture was developed, and with it a settled lifestyle that allowed a more stable existence and the development of a different reproductive pattern. Various estimates indicate that the human population increased from 0.05 million at the time of the emergence of modern Homo sapiens to 6,000 million at the present time (120,000-fold increase). CONCLUSIONS: These evolutionary considerations were used to explore three areas: (1) the extinction of the Neanderthals, who coexisted for ca. 65,000 years with modern humans; (2) the relatively low and stable rate of human conceptions (20-35% of ova fertilized naturally or fertilized in vitro); and (3) the long postnatal period required for the full maturation of the immune response. From these considerations, a broad view of the human reproductive process was obtained that may provide some insight into the rationale for the development of effective reproductive technologies.

Animals↗
PubMed1998

Can alcohol retain the reproductive and genetic potential of sperm nuclei? Chromosome analysis of mouse spermatozoa stored in alcohol.

Alcohol is known to preserve genomic DNA and the primary structure of sperm protamines. To determine whether alcohol can retain the genetic and reproductive potential of mammalian sperm nuclei, mature mouse spermatozoa were stored in 70% ethanol or propanol for up to 2 months before injection into oocytes. Live offspring were obtained after injection of spermatozoa stored in 70% ethanol for 1 day at -20 degrees C. About 20% of the spermatozoa stored under this condition had normal chromosomes. The remaining 80% of spermatozoa and all the spermatozoa stored in 70% ethanol for 2 months had structurally aberrant chromosomes, and none could support the development of normal embryos. High concentrations of alcohol do not alter the primary structure of either DNA or small-molecular-weight protamines. However, alcohol may modify protamine-protamine or protamine-DNA interactions in a manner that results in the induction of DNA strand breaks during sperm chromatin decondensation within the oocyte. The limited success in obtaining normal offspring with ethanol-stored spermatozoa is encouraging. It may be possible to overcome these problems and develop a simple method for preserving mammalian spermatozoa without freezing.

Animals↗