11/19. medulla oblongata germinoma in association with klinefelter syndrome.A rare case of medulla oblongata germinoma in a 19-year-old Japanese man with klinefelter syndrome is presented. light microscopic examination of the resected specimen showed very few lymphocytes, and an immunohistochemical study for placental alkaline phosphatase was of great diagnostic value. Up to now there have been only five cases of intracranial germ cell tumors in association with klinefelter syndrome. These tumors were situated along in the midline structure. It is emphasized that endocrinological factors at the time of embryogenesis as well as a genetic malignant potential are important in the pathogenesis of extragonadal germ cell tumors associated with klinefelter syndrome.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
12/19. klinefelter syndrome and mediastinal germ cell tumors.Precocious puberty is not a typical manifestation of patients with klinefelter syndrome (KS). However, there is an increased incidence of mediastinal germ cell tumors (M-GCT) in KS, whereas the discussion of a generally higher tumor risk in this condition is still controversial. A rare subgroup of KS patients consists of prepubertal children with precocious puberty due to human chorionic gonadotropin (hCG)-producing M-GCTs. We present clinical data on a boy with KS and sexual precocity, and summarize the published data on 12 boys with KS out of 54 cases of KS and M-GCT. Clinical report: an 8.5-year-old boy presented with signs of precocious puberty. Laboratory analyses (suppressed gonadotropins, elevated testosterone) and thoracic CT demonstrated a beta-human chorionic gonadotropin (beta-hCG) and alpha(1)-feto protein (alpha-FP) secreting mediastinal tumor. Histological analysis showed a mixed germ cell tumor comprising choriocarcinoma (CH), embryonal carcinoma (EC), mature teratoma (MT), and yolk sac tumor (YS). He was successfully treated by surgery and adjuvant chemotherapy. Epianalysis of published cases: all KS patients (n = 12), age 4-9 years, presented with precocious sexual development (PP), whereas the older ones showed thorax-associated symptoms, mainly chest pain, dyspnea, and cough. The histological distribution was also age-dependent with mixed germ cell tumors predominantly in younger patients. Thus, M-GCTs are strongly associated with precocious puberty in young boys with KS. Therefore, a karyotype analysis should be included in the clinical work-up of boys with precocious puberty and M-GCT. There is still no convincing explanation for the association of M-GCTs and KS.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
13/19. An ongoing pregnancy after frozen thawed embryo transfer in a patient with Klinefelter's syndrome.BACKGROUND: pregnancy following frozen thawed embryo transfer in a patient with nonmosaic Klinefelter's syndrome is extremely rare. A healthy ongoing pregnancy achieved with frozen thawed embryo transfer in a patient with nonmosaic Klinefelter's syndrome was described. METHOD: A case report from a tertiary center for assisted reproductive technologies. A 34-year-old man with azoospermia and nonmosaic Klinefelter's syndrome and his 26-year-old wife presented with primary infertility of 8 years' duration. Frozen thawed embryo transfer following intracytoplasmic sperm injection using surgically retrieved spermatozoa was performed. RESULTS: A healthy ongoing pregnancy with a normal 46,XY karyotype was achieved with day 3 frozen thawed embryo transfer. CONCLUSION: Frozen thawed embryo transfer may be a viable option to achieve pregnancy in patients with Klinefelter's syndrome.- - - - - - - - - - ranking = 9keywords = embryo (Clic here for more details about this article) |
14/19. Extragonadal germ cell tumor in the retrovesical region associated with Klinefelter's syndrome: a case report and review of the literature.We report a case of an extragonadal germ cell tumor from the retrovesical region associated with Klinefelter's syndrome. The patient presented with symptoms of macroscopic hematuria and micturition pain. An x-ray and digital examination were suspicious for prostatic carcinoma. However, needle biopsy of the tumor revealed embryonal cell carcinoma. serum alpha-fetoprotein was 10,700 ng. per ml. Preoperatively, combined cytotoxic chemotherapy was administered and the antineoplastic effect was excellent. serum alpha-fetoprotein rapidly returned to the normal range and the tumor volume decreased. Although the preoperative diagnosis was extragonadal germ cell tumor of the prostate, surgery revealed that the tumor originated from the retrovesical region. orchiectomy and resection were performed. The resected tissue was mostly necrotic with a few viable cells of embryonal cell carcinoma, no metastatic lesions were detected in the lymph nodes and no masses were noted in the testes. Postoperatively, the patient was treated with cytotoxic chemotherapy. His condition has remained good with no clinical evidence of recurrence of the disease.- - - - - - - - - - ranking = 2keywords = embryo (Clic here for more details about this article) |
15/19. Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor.trypsin-Giemsa banding studies were performed on 30 tumor cells from an embryonal cell carcinoma originating in the mediastinum of an 18-year-old male with the klinefelter syndrome (47,XXY). All tumor cells revealed an XXY chromosomal pattern with the addition of extra chromosomes. Electrophoretic patterns of the patient's red blood cells and tumor cells were identical. These data suggest that this germ cell tumor originated from a primordial germ cell in which oncogenesis had occurred prior to meiotic division.- - - - - - - - - - ranking = 5keywords = embryo (Clic here for more details about this article) |
16/19. 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 = 1keywords = embryo (Clic here for more details about this article) |
17/19. pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype.OBJECTIVE: To report the initiation of a pregnancy that was achieved by intracytoplasmic sperm injection (ICSI) with sperm from a patient with Klinefelter's syndrome. DESIGN: Case report. SETTING: University women's hospital IVF center. PATIENT(S): A couple with primary infertility and nonmosaic 47,XXY karyotype of the male partner. INTERVENTION(S): Intracytoplasmic sperm injection after ovarian stimulation and transvaginal ultrasound-guided oocyte pick-up with sperm from a hypergonadotropic man with a nonmosaic 47,XXY karyotype. MAIN OUTCOME MEASURE(S): Clinical pregnancy. RESULT(S): Despite a 47,XXY karyotype in all 50 analyzed lymphocyte metaphases, the sperm of the patient led to a clinical pregnancy with the first attempt of ICSI and intrauterine transfer of three embryos. The pregnancy stopped developing in the ninth week. Cytogenetic investigation of the abortion material revealed a numerical normal 46,XXY karyotype. CONCLUSION(S): Sperm from a patient with hypergonadotropic nonmosaic Klinefelter's syndrome, when used for ICSI, can lead to a pregnancy.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
18/19. Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome.Klinefelter's syndrome is a disorder of gonadal development and typically reveals a 47,XXY karyotype although mosaic forms also occur. azoospermia is a common feature, but severe oligozoospermia and fertility have been reported. In this study, we have used intracytoplasmic sperm injection (ICSI) to achieve a live twin birth using spermatozoa from a 47,XXY man who has occasional spermatozoa present in the ejaculate. spermatozoa were obtained from multiple ejaculates and frozen prior to commencing IVF treatment. Nine good quality embryos developed from the injection of 13 oocytes. All nine embryos were frozen. The initial transfer of two frozen-thawed embryos was unsuccessful. In the following cycle, the transfer of two additional frozen-thawed embryos resulted in the delivery of normal, healthy male and female twins. Five embryos remain frozen. It has generally been thought that the germ cells of 47,XXY men are unable to proceed through meiosis. Any spermatozoa produced have been assumed to come from a normal germ cell and therefore likely to have a normal karyotype. However, recent evidence suggests that meiosis of 47,XXY germ cells may be possible. Whether spermatozoa in these men arise from meiosis of 47,XXY germ cells, or from germ cells which have attained a normal karyotype by loss of an x chromosome, is unclear. Any risks in using spermatozoa from these patients have not yet been established. patients need to be advised accordingly, and preimplantation or prenatal diagnosis should be considered. A cautious approach to the treatment of these patients is therefore warranted.- - - - - - - - - - ranking = 5keywords = embryo (Clic here for more details about this article) |
19/19. 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 = 8keywords = embryo (Clic here for more details about this article) |
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