1/8. Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome.Klinefelter's syndrome is one of the known causes of azoospermia or cryptoazoospermia, and it may present in non-mosaic (47,XXY) or mosaic (47,XXY/46,XY) form. The likelihood of finding spermatozoa in the ejaculate or testicular tissue of patients with mosaic Klinefelter's syndrome is low, and with the non-mosaic form, even lower. We describe a patient with non-mosaic Klinefelter in whom initially non-motile spermatozoa were derived from searching the ejaculate. Ten mature oocytes were injected, but none was fertilized. Subsequently, testicular biopsy was undertaken in order to collect spermatozoa for oocyte injection. Fifteen motile sperm cells were found and injected. Nine oocytes were fertilized and cleaved; three embryos were transferred into the uterine cavity. The woman conceived and following a normal pregnancy delivered a healthy child. Genetic analysis of the neonate disclosed a normal 46,XY karyotype. Non-motile spermatozoa in the ejaculate did not prove their fertilization potential, but their presence did not exclude finding motile, fertile spermatozoa in the testicular tissue in a non-mosaic Klinefelter patient. This report is further evidence that normal spermatozoa with fertilization potential are produced in the testes of patients with Klinefelter's syndrome.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
2/8. Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome.OBJECTIVE: To report the birth of healthy twin males after the use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome. DESIGN: Case report. SETTING: Private reproduction center with university affiliation. PATIENT(S): A couple undergoing intracytoplasmic sperm injection (ICSI) combined with testicular sperm extraction because of the husband's secretory azoospermia and a nonmosaic 47,XXY peripheral blood karyotype. The wife, a healthy female, presented with a history of oligomenorrhea. INTERVENTION(S): ICSI was performed using testicular spermatozoa; 3 mM pentoxifylline solution was used to induce sperm motility because the spermatozoa recovered were all immotile. MAIN OUTCOME MEASURE(S): Normal fertilization, embryo cleavage, pregnancy outcome, and peripheral blood karyotype of the newborns. RESULT(S): Thirteen metaphase II oocytes were injected. Seven of them fertilized normally and six did not fertilize. Three good-quality embryos (4-cell stage class II) were transferred, and four were cryopreserved at the two-cell and four-cell stages using a slow freezing protocol. Twelve days after ET, a beta-hCG determination was positive. Ultrasonographic examination revealed three intrauterine fetal sacs, but one of them showed a fetal pole without cardiac activity and vanished in subsequent ultrasonographic examinations. The patient delivered twins with normal male peripheral blood karyotypes. CONCLUSION(S): Normal outcome after the use of testicular sperm extraction and ICSI in a nonmosaic patient with Klinefelter's syndrome reaffirms the notion of low transmission risk of this gonosomal aneuploidy.- - - - - - - - - - ranking = 0.5keywords = fertilization (Clic here for more details about this article) |
3/8. fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male.It has been suggested recently that 47,XXY germ cells are able to progress through meiosis to produce hyperhaploid spermatozoa. We report on a 46,XY/47,XXY Klinefelter patient whose spermatozoa were recovered from the ejaculate and used for intracytoplasmic sperm injection (ICSI). fluorescence in-situ hybridization (FISH) analysis of the patient's spermatozoa and of spare preimplantation embryos with dna probes specific for chromosomes X, Y and 18 revealed sex chromosome hyperploidy in 3.9% of the sperm nuclei analysed (2.23% XY18, 1.12% XX18, 0.56% YY18), while only three out of 10 spare embryos analysed were normal for chromosomes tested. The abnormalities included two diploid mosaic embryos with the majority of the blastomeres normal for the chromosomes tested, and five embryos with mostly abnormal blastomeres and chaotic chromosome X, Y and 18 patterns. None of the embryos analysed showed a XXY1818 or XXX1818 chromosome complement. The frequency of sex chromosome hyperploidy in the spermatozoa of the mosaic Klinefelter patient was higher than the mean reported for karyotypically normal males, supporting the hypothesis that 47,XXY germ cells are able to complete meiosis and produce aneuploid spermatozoa. However, most of the spermatozoa analysed were normal for sex chromosomes, and ICSI of the patient's spermatozoa did not result in a spare embryo with a uniform 47,XXY or 47,XXX chromosome complement. Instead, fertilization produced a high percentage of mosaic embryos with chaotic chromosome arrangements.- - - - - - - - - - ranking = 0.5keywords = fertilization (Clic here for more details about this article) |
4/8. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome.OBJECTIVE: To report two births of a healthy male and a healthy female baby after use of testicular spermatozoa from two patients with nonmosaic Klinefelter's syndrome. DESIGN: Case report. SETTING: General academic hospital with IVF center and university institute of human genetics. PATIENT(S): Two couples with primary infertility in which the men had secretory azoospermia and nonmosaic 47,XXY karyotype. Both women had a normal karyotype and no gynecologic abnormalities. INTERVENTION(S): ICSI was performed using testicular spermatozoa after ovarian stimulation and transvaginal ultrasonography-guided oocyte pick-up. MAIN OUTCOME MEASURE(S): Normal fertilization, embryo cleavage, clinical pregnancy outcome, and peripheral blood karyotype of the newborn. RESULT(S): In each case, 13 metaphase II oocytes were injected, of which 7 fertilized normally. Three good-quality embryos (4-cell stage) were transferred into the uterine cavity. Both women conceived, and normal pregnancies followed. Genetic analysis of the neonates revealed normal 46,XX and 46,XY karyotypes. CONCLUSION(S): These case reports reaffirm that patients with nonmosaic Klinefelter's syndrome produce normal spermatozoa with fertilization potential. Although it is premature to make conclusions about the rate of transmission of this aneuploidy because of the low number of the published cases, this report substantiates the idea that rates of transmission of this gonosomal aneuploidy are low.- - - - - - - - - - ranking = 1keywords = fertilization (Clic here for more details about this article) |
5/8. Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with nonmosaic Klinefelter's syndrome: a report of 2 cases.BACKGROUND: Klinefelter's syndrome is one of the major causes of azoospermia, cryptozoospermia and severe oligozoospermia with either a nonmosaic (47,XXY) or mosaic (47,XXY/46,XY) ICSI treatment with cryopreserved testicular spermatozoa failed, but after the third attempt, 6 of 8 oocytes injected with cryopreserved sperm were fertilized and karyotype. Men with Klinefelter's syndrome generally have difficulty having children. CASES: Patient 1 had motile spermatozoa in the ejaculate, which were injected into 3 oocytes, resulting in fertilization and cleavage. Two good-quality embryos were transferred into his wife's uterine cavity. She conceived and, following a normal pregnancy, delivered a healthy female infant. Two years later she conceived for the second time with motile spermatozoa in the ejaculate and delivered a healthy male infant uneventfully. To our knowledge, this was the first case in which a nonmosaic Kleinefelter's syndrome patient fathered 2 children through intracytoplasmic sperm injection (ICSI) using motile spermatozoa in the ejaculate. Patient 2, with azoospermia, was subjected to testicular biopsy to collect spermatozoa. The first 2 attempts at ICSI treatment with cryopreserved testicular spermatozoa failed, but after the third attempt, 6 of 8 oocytes injected with cryopreserved sperm were fertilized and cleaved. Two of these embryos were transferred into the wife's uterine cavity. She conceived and, following a normal pregnancy, delivered a healthy male infant. In all cases, amniocentesis followed by genetic analysis showed a normal karyotype. CONCLUSION: Two infertile men with nonmosaic Klinefelter's syndrome successfully fathered normal children after intracytoplasmic injection of ejaculated or testicular spermatozoa.- - - - - - - - - - ranking = 0.5keywords = fertilization (Clic here for more details about this article) |
6/8. testosterone-induced priapism in klinefelter syndrome.We present the case of a patient with klinefelter syndrome and priapism after testosterone administration. The patient underwent testicular sperm extraction for interventional fertilization, but no sperm were found. Because he had given up trying to father a child and his testosterone level had been low, testosterone replacement therapy was started with testosterone enanthate. After the third injection, he presented with low-flow priapism. Conservative management was successful, and no recurrence developed during the next 15 months. testosterone replacement therapy carries some risk of priapism even for patients with klinefelter syndrome.- - - - - - - - - - ranking = 0.5keywords = fertilization (Clic here for more details about this article) |
7/8. High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome.With the introduction of intracytoplasmic sperm injection (ICSI) as a practical successful treatment for male infertility, we are able to offer the procedure to a group of patients who probably could never father a child of their own. From a patient with mosaic Klinefelter's syndrome, sufficient motile sperm for intracytoplasmic sperm injection were obtained from a fresh ejaculate estimated to contain < 100 motile sperm. In the first IVF-ICSI attempt, out of seven oocytes that were collected from the wife, four were mature and were injected by ICSI. fertilization occurred in all four oocytes but only one cleaved and was transferred to the uterus. Pregnancy test was negative 16 days after ET. In the second treatment cycle four out of eight oocytes were selected for ICSI. All four fertilized, three cleaved at the right time, and two were transferred into the wife's uterus. One embryo was frozen. Pregnancy test 16 days after ET was negative. The high fertilization rate achieved in this case indicates the potential of ICSI to treat extreme male infertility. Its use offers hope to those patients with conditions previously considered to be untreatable.- - - - - - - - - - ranking = 2.5keywords = fertilization (Clic here for more details about this article) |
8/8. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis.Non-mosaic Klinefelter patients are generally azoospermic due to primary testicular failure. Nevertheless, in some cases, testicular spermatozoa may be recovered and utilized to fertilize oocytes via intracytoplasmic sperm injection (ICSI). As the risk for an increased number of gonosomes in these spermatozoa is unclear, preimplantation genetic diagnosis (PGD) may be attempted in the resulting embryos. In the present study, we report our experience with the combined approach of sperm retrieval by testicular fine needle aspiration (FNA), ICSI and PGD in seven consecutive non-mosaic Klinefelter individuals. In four patients, between one and five spermatozoa were retrieved in five out of nine consecutive attempts. In a fifth patient, only 10 round spermatids could be isolated. Mature spermatozoa were injected into a total of 16 metaphase-II oocytes, of which 11 (69%) remained intact. Two distinct pronuclei (2PN) were observed in four oocytes (36%) while a single pronucleus (1PN) was documented in two oocytes. Five cleavage stage embryos developed from the oocytes of two couples. Upon the request of one couple, their three embryos (two derived from 1PN oocytes) were transferred without PGD but pregnancy was not achieved. PGD by fluorescence in-situ hybridization (FISH) was performed in the two embryos of the other couple which were derived from normal fertilization. PGD results of one embryo were 18,18,X,X,Y, the embryo was not transferred and FISH analysis of the remaining blastomeres identified variable chromosome numbers in the nuclei. The second embryo was diagnosed as normal and was transferred, resulting in a successful pregnancy and birth. In conclusion, the results of this report indicate that a pregnancy and birth may be attained in azoospermic non-mosaic Klinefelter individuals by testicular FNA combined with ICSI. Due to the unknown risk of gonosomes aneuploidy in embryos from Klinefelter patients, PGD or prenatal diagnosis should be recommended.- - - - - - - - - - ranking = 0.5keywords = fertilization (Clic here for more details about this article) |