1/346. Klinefelter's syndrome and bladder cancer. A patient with Klinefelter's syndrome is described who also had transitional cell carcinoma of the bladder. His mother and maternal grandfather died of neoplasms. It is suggested that neoplasm and aneuploidy in the same family could have been caused by an inherited chromosomal instability rather than coincidence. ( info) |
2/346. 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. ( info) |
3/346. Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation. The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases. ( info) |
4/346. Extragonadal germ cell tumor of the prostate associated with Klinefelter's syndrome. PURPOSE: We report on a case of extragonadal germ cell tumor of the prostate associated with Klinefelter's syndrome. methods/RESULTS: The patient was a 33-year-old man. A transrectal prostate biopsy suggested combined germ cell tumor (yolk sac tumor teratoma). Because there was no tumor except from the prostate, we considered this case to be a primary extragonadal germ cell tumor of the prostate. The prostate tumor responded to systemic chemotherapy with cisplatin, vinblastine and bleomycin and elevated lactate dehydrogenase and alpha-fetoprotein levels normalized. In addition to chemotherapy, the patient also underwent radiation therapy. CONCLUSION: The patient has survived for approximately 4 years since the diagnosis. ( info) |
5/346. True hermaphroditism: an analytic review with a report of 3 new cases. Three new cases of true hermaphroditism are described: a 14-year-old patient with a testis on one side and an ovotestis on the other side and a 11-year-old patient as well as a 6-year-old patient both with an ovary on the one side and an ovotestis on the other side. Twenty-four cases, which were personally investigated, were previously reported. Therefore, this analytic review is based upon the author's experience of 27 cases as well as 340 cases reported in the world literature since 1899. The presenting symptoms and age of diagnosis are discussed. Apart from ambiguous genitals, the development of breasts in a patient reared as male is an important presenting symptom. The variations found regarding the external and internal genitals are described. An ovotestis is the most common gonad found in true hermaphroditism. Among 116 ovotestes available for analysis, 46 per cent are located in an ovarian position, 26 per cent in the labioscrotal fold, 24 per cent in the inguinal canal, and 4 per cent in the internal inguinal ring. Evidence of ovulation is found in 50 per cent of ovotestes. spermatogenesis has not been observed in the testicular portion of an ovotestis. spermatogenesis was present in only 12 per cent of testes found in true hermaphroditism. Dysgerminomas occur with a frequency of 1.3 per cent. A fallopian tube and a vas deferens were never found together next to an ovotestis. Cytogenetic findings are reported in 115 cases of true hermaphroditism, including the cases described in this paper. A 46,XX chromosomal complement is the most common finding, occurring in 57.4 per cent of cases. It is interesting that 42.6 per cent showed no evidence of a y chromosome. With the use of the fluorescent technique in metaphase chromosomes as well as the Y chromatin body in interphase cells, no y chromosome was detected in the three new cases reported here. The various possibilities for the development of testicular tissues in the absence of a y chromosome are discussed. In the diagnosis of true hermaphroditism the palpation of an ovotestis with a soft testicular portion and a firm ovarian portion is stressed. As far as the treatment of true hermaphroditism is concerned, the external genitals should be changed according to the gender identity which usually correlates with the sex of rearing. ( info) |
| A case of primary mediastinal choriocarcinoma in a chromatin-positive boy is reported. The incidence of neoplasms in patients with so-called Klinefelter's syndrome is discussed as well as embryogenesis and diagnostic evaluation in patients presenting with this tumor. ( info) |
7/346. 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. ( info) |
8/346. Y-chromosomal genes in a phenotypic male with a 46XX karyotype. A number of patients with a male phenotype and a female (46XX) karyotype have been described. Although there is little or no evidence for the presence of a y chromosome in their cells, these individuals resemble patients with klinefelter syndrome (47XXY). Using a new serological assay for the presence of h-y antigen, a cell surface component associated with the y chromosome, we have demonstrated the presence of Y-chromosomal genes in a 46-year-old man with an XX karyotype. In addition, using standard cytological technique, we have located a minor population of XXY cells as well as cells bearing and abnormal chromosome 17 among the blood leukocytes of this individual. ( info) |
9/346. Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient. A 47,XXY/46,XY male was investigated for the incidence of aneuploidy in sperm sex chromosomes using a three-colour X/Y/18 fluorescence in situ hybridisation (FISH) protocol. A total of 1701 sperm nuclei were analysed. The ratio of X-bearing to Y-bearing sperm did not differ from the expected 1:1 ratio although there were more 23,Y sperm than 23,X sperm (844 vs 795). There was a significantly increased proportion of disomy XY and XX sperm compared with normal controls (0.41% vs 0.10%, P < 0.001 and 0.29% vs 0.04%, P < 0.01). However, the incidence of YY sperm was similar to the controls (0.06% vs 0.02%). The diploidy rate was also significantly increased (1.7% vs 0.13%, P < 0.0001), as was disomy 18 (0.71% vs 0.09%) and 25,XXY (0.47% vs 0%). The results support the hypothesis that some 47,XXY cells are able to undergo meiosis and produce mature spermatozoa. patients with mosaic klinefelter syndrome with severe oligozoospermia have significantly elevated incidences of disomy XY and XX sperm and may be at a slightly increased risk of producing 47,XXX and 47,XXY offspring. Additionally, they may be at risk of producing offspring with autosomal trisomies. Hence, patients with Klinefelter mosaicism scheduled for intracytoplasmic sperm injection intervention should first undergo FISH analysis of their sperm to determine their risk. ( info) |
10/346. The role of lipoaspiration in defeminization of klinefelter syndrome: a case report. klinefelter syndrome is the most frequent sex chromosome anomaly. Affected men characteristically present a tall stature, eunuchoid contours with feminine fat distribution, gynecomastia, hypogonadism, infertility, and behavioral and psychiatric disorders. Diagnosis is confirmed by karyotype, which demonstrates an extra X chromosome. Treatment is mainly directed toward appropriate defeminization. Current treatment consists of testosterone replacement therapy and surgical correction of gynecomastia. ( info) |