1/220. Triplet pregnancy achieved through intracytoplasmic sperm injection with spermatozoa obtained by prostatic massage of a paraplegic patient: case report.spinal cord-injured men with ejaculation disorders can have children thanks to assisted reproduction techniques. spermatozoa from these patients are usually obtained through vibratory stimulation, electroejaculation or by puncturing the seminal duct or the testicle. We present the first published case, as far as we are aware, of spermatozoa obtained through prostatic massage of a paraplegic patient. Penile vibratory stimulation was unsuccessful in this patient. In-vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) with spermatozoa obtained through electroejaculation was performed at another centre but pregnancy was not achieved. Through prostatic massage, we obtained a total semen volume of 6 ml containing a total count of 12.32x10(6) spermatozoa (6.24x10(6) with tails), 8% of which had motility (graded and ); and 16% of which had normal morphology. The spermatozoa obtained were then used to perform IVF with ICSI and a triplet pregnancy was achieved. Prostatic massage appears to be an easy, non-traumatic and risk-free method to obtain spermatozoa from paraplegic patients.- - - - - - - - - - ranking = 1keywords = ring (Clic here for more details about this article) |
2/220. Three-generation evaluation of Y-chromosome microdeletion.Sperm cells can be retrieved directly from the testis (testicular sperm extraction [TESE] procedure) and used for intracytoplasmic sperm injection (ICSI), circumventing underlying spermatogenetic defects. Thus, it is important that added information be available on the genetic defects in men undergoing TESE for the ICSI procedure and on the transmission of genetic factors associated with infertility to the offspring. We report a three-generation genetic analysis of a family with a case of male factor infertility. The proband, previously diagnosed as infertile, was physically examined and laboratory tested for gonadotrophic hormones, semen analysis, karyotype and Y-chromosome microdeletion screening in the blood and testis. The Y-chromosome microdeletion screening was performed by multiplex polymerase chain reaction with 20 Y-chromosome sequenced, tagged sites located at the y chromosome. A microdeletion including the AZF-c region was detected in the azoospermic patient. His father, four brothers, and three offspring born after ICSI also underwent Y-chromosome microdeletion screening. The genetic analysis of the male members of the patient's family did not reveal similar microdeletions. The newborn male was found to bear a Y-chromosome microdeletion similar to that of his father. The fertilization capacity of the proband testicular microdeleted spermatozoa by the ICSI procedure is described. The transfer of the genetic defect raises the possibility that the son will have the same fertility problem as his father.- - - - - - - - - - ranking = 3387.9035119566keywords = chromosome, ring (Clic here for more details about this article) |
3/220. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility.Deletion of the AZFc region of the y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four infant sons. All four sons were found to have inherited the y chromosome deletions. Such sons are likely to be infertile as adults. This likelihood should be taken into account when counselling couples considering ICSI to circumvent infertility due to severe oligozoospermia or non-obstructive azoospermia.- - - - - - - - - - ranking = 1016.771053587keywords = chromosome, ring (Clic here for more details about this article) |
4/220. Male infertility associated with a unique 8;22 translocation.Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.- - - - - - - - - - ranking = 1keywords = ring (Clic here for more details about this article) |
5/220. y chromosome microdeletion in a father and his four infertile sons.Microdeletions of Yq are associated with azoospermia and severe oligozoospermia. In general, men with deletions are infertile and therefore deletions are not transmitted to sons unless in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are performed. We report an unusual family characterized by multiple members with infertility and Yq microdeletion. Complete reproductive history, semen analyses and blood samples were elicited from relevant family members. dna preparation and quantification were performed using commercial kits. A total of 27 pairs of sequence tagged sites based primer sets specific for the Y microdeletion region loci were used for screening. Southern blots using deleted in azoospermia (DAZ) and ribosomal binding motif (RBM) cDNAs were then analysed for confirmation. The proband, his three brothers and father were all found to be deleted for DAZ but not RBM. At the time of analysis, the proband's father was azoospermic whereas his four sons were either severely oligozoospermic or azoospermic. Unlike their father, the four sons are infertile and have no offspring, except for one of them who achieved a daughter only after IVF/ICSI treatment for infertility. Microdeletions of Yq involving the DAZ gene are associated with a variable phenotypic expression that can include evidently normal fertility.- - - - - - - - - - ranking = 1355.3614047827keywords = chromosome, ring (Clic here for more details about this article) |
6/220. Embryo development, pregnancy and twin delivery after microinjection of 'stump' spermatozoa.Intracytoplasmic sperm injection was performed with immotile spermatozoa affected by tail 'stump' defect, and resulted in normal fertilization, embryo transfer and pregnancy in a 35-year-old female. The husband had a consanguineous ancestry. Two healthy babies, a male and a female, were born and this confirms that male infertility due to certain genetic sperm defects can be overcome by the intracytoplasmic sperm injection-assisted reproduction technique. The likely genetic origin of this sperm defect and the probability of the male offspring inheriting this sperm defect should be considered. The fertilization ability of stump spermatozoa, microinjected into the oocyte, is explained on the basis of experience from our previous research.- - - - - - - - - - ranking = 1keywords = ring (Clic here for more details about this article) |
7/220. Compound genetic factors as a cause of male infertility: case report.A 40 year old healthy Chinese male with primary infertility was seen in a university male infertility and genetic counselling clinic. He presented with congenital bilateral absence of the vas deferens (CBAVD) and the finding of testis atrophy. Fine needle aspiration mapping of the testis identified and localized sperm production within the testicles for in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Careful evaluation of testicular cytology revealed late maturation arrest of spermatogenesis. cystic fibrosis gene mutation analysis revealed heterozygosity for the 5T variant within the polypyrimidine tract of intron 8. cytogenetic analysis revealed a pericentric inversion of chromosome 6 with break points at p12 and q21 [46,XY,inv(6)(p12q21)]. This case illustrates that spermatogenesis is not necessarily normal with congenital bilateral absence of the vas deferens. Compound genetic defects may coexist and underlie male infertility.- - - - - - - - - - ranking = 338.59035119566keywords = chromosome (Clic here for more details about this article) |
8/220. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa were significantly increased in the 47,XXY male compared to subjects from the two control groups (P < 0.0001). For the 46,XY/47,XXY sample, the same results were observed, except that the incidence of YY disomic spermatozoa did not differ significantly from the rate obtained in infertile patients. The frequency of sex chromosome aneuploidy did not differ significantly between the 47,XXY and the 46,XY/47,XXY males, except for XX disomic sperm nuclei which was higher in the 47,XXY patient. The frequency of chromosome 12 disomy was also increased in the two XXY individuals (0.42 and 0.49% respectively; P < 0.0001). The meiotic abnormalities observed in the two XXY patients arose through segregation errors in XY germ cells. The increased number of meiotic non-disjunctions observed in the germ cells of infertile males may be a common feature of the deficient oligo- or azoospermic testis. patients with Klinefelter's syndrome with oligozoospermia have an increased risk of both sex chromosome and autosome aneuploidy in their progeny.- - - - - - - - - - ranking = 2708.7228095653keywords = chromosome (Clic here for more details about this article) |
9/220. Shattering the myths about male infertility. Treatment of male factors may be more successful and cost-effective than you think.Male factors play a role in up to half of subfertile couples, contrary to the myth that male factors rarely play a role. In this article, Dr Sandlow counters this and other myths about male infertility and suggests that primary care physicians can increase a couple's chance of conceiving by evaluating for male as well as female factors. This article will also help primary care physicians provide appropriate education and treatment, as well as determine when to make a referral to a male-infertility specialist.- - - - - - - - - - ranking = 4keywords = ring (Clic here for more details about this article) |
10/220. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion.Human male infertility is often related to chromosome abnormalities. In chromosomally normal infertile males, the rates of chromosome 21 and sex chromosome disomy in spermatozoa are increased. Higher incidences of trisomy 21 (seldom of paternal origin) and sex chromosome aneuploidy are also found. XXY and XYY patients produce increased numbers of XY, XX and YY spermatozoa, indicating an increased risk of production of XXY, XYY and XXX individuals. Since XXYs can reproduce using intracytoplasmic sperm injection (ICSI), this could explain the slight increase of sex chromosome anomalies in ICSI series. Carriers of structural reorganizations produce unbalanced spermatozoa, and risk having children with duplications and/or deficiencies. In some cases, this risk is considerably lower or higher than average. These patients also show increased diploidy, and a higher risk of producing diandric triploids. Meiotic disorders are frequent in infertile males, and increase with severe oligoasthenozoospemia (OA) and/or high follicle stimulating hormone (FSH) concentrations. These patients produce spermatozoa with autosomal and sex chromosome disomies, and diploid spermatozoa. Their contribution to recurrent abortion depends on the production of trisomies, monosomies and of triploids. The most frequent sperm chromosome anomaly in infertile males is diploidy, originated by either meiotic mutations or by a compromised testicular environment.- - - - - - - - - - ranking = 3724.4938631523keywords = chromosome (Clic here for more details about this article) |
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