1/43. 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.- - - - - - - - - - ranking = 1keywords = cancer, neoplasm (Clic here for more details about this article) |
2/43. 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.- - - - - - - - - - ranking = 262.81360677924keywords = testis (Clic here for more details about this article) |
3/43. Mediastinal choriocarcinoma in a chromatin-positive boy.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.- - - - - - - - - - ranking = 0.03407560115201keywords = neoplasm (Clic here for more details about this article) |
4/43. Malignant leydig cell tumor of the testis associated with Klinefelter's syndrome.We reported the case of a 35-year-old man with Klinefelter's syndrome and a malignant leydig cell tumor of the testis. Bilateral gynecomastia and right testicular enlargement led the patient to seek medical assistance. Despite initial orchidectomy two years later the patient developed lung and iliac lymph node metastases. The tumor appeared to be refractory to chemotherapy and to hormonal treatments including op'DDD. Finally, the patient died within 20 months of developing metastases. leydig cell tumor is an exceedingly rare tumor, especially when associated with Klinefelter's syndrome. This association as well as presentation, pathologic features, hormonal abnormalities, clinical course and response to therapy of malignant Leydig cell tumors are discussed.- - - - - - - - - - ranking = 187.72400484232keywords = testis (Clic here for more details about this article) |
5/43. 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 = 37.544800968463keywords = testis (Clic here for more details about this article) |
6/43. A case of klinefelter syndrome with retroperitoneal teratoma.klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.- - - - - - - - - - ranking = 0.03407560115201keywords = neoplasm (Clic here for more details about this article) |
7/43. A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report.The birth of 12 healthy infants to fathers with non-mosaic Klinefelter's syndrome has been reported so far. The spermatozoa for these pregnancies was obtained from frozen-thawed ejaculate in one pregnancy (twins) and from the testis in the remaining 10 infants. All of them had a normal karyotype. We describe a patient with non-mosaic Klinefelter's syndrome from whom a testicular biopsy was obtained and motile spermatozoa were collected. Of 16 oocytes that were injected, 14 fertilized and cleaved. Three embryos were transferred, resulting in a triplet pregnancy. karyotype analysis from chorionic villous sampling revealed 46,XX, 46,XY and 46,XXY from the three fetuses. The affected 46,XXY fetus was reduced on the 14th gestational week. The pregnancy culminated with the birth of a healthy male and female, on the 36th gestational week, weighing 3600 and 2660 g respectively. This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome.- - - - - - - - - - ranking = 37.544800968463keywords = testis (Clic here for more details about this article) |
8/43. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility.OBJECTIVE: To describe a case involving the cryopreservation of testis tissue retrieved from a 15-year-old male teenager with Klinefelter's syndrome. DESIGN: Case report. SETTING: An academic medical center. PATIENT(S): A 15-year-old boy with Klinefelter's syndrome. INTERVENTION(S): Microsurgical testis sperm extraction with cryopreservation of harvested tissue. MAIN OUTCOME MEASURE(S): spermatozoa within testis tissue. RESULT(S): Successful extraction and cryopreservation of three vials of sperm-containing testis tissue. No effect on subsequent testosterone levels. CONCLUSION(S): testis tissue extraction in the adequately virilized but azoospermic young male with 47, XXY Klinefelter's syndrome may be a strategy to preserve future biological paternity.- - - - - - - - - - ranking = 150.17920387385keywords = testis (Clic here for more details about this article) |
9/43. Agnogenic myeloid metaplasia associated with klinefelter syndrome: a case report.klinefelter syndrome is the most commonly diagnosed sex chromosome disorder among males. It is usually associated with 47 chromosomes, including two Xs and one Y. The formal cytogenetic designation for klinefelter syndrome is 47, XXY; the extra sex chromosome is due to meiotic chromosomal nondisjunction. Increased risk of various malignant diseases has been recognized among patients with different congenital chromosomal abnormalities. Since the early 1960s, numerous reports have appeared of an increased risk of malignant neoplasms among patients with klinefelter syndrome. Evidence suggests a correlation with increased incidences of germ cell tumors and breast cancers. Whether these patients are at an increased risk of hematologic malignant disease, especially acute leukemia, is still uncertain. This report describes a patient with agnogenic myeloid metaplasia and klinefelter syndrome, an association not previously reported.- - - - - - - - - - ranking = 0.267037800576keywords = cancer, neoplasm (Clic here for more details about this article) |
10/43. prostate cancer in klinefelter syndrome during hormonal replacement therapy.prostate cancer detection is a rare occurrence in patients with klinefelter syndrome, in whom chronically low circulating androgen levels are common findings. Administration of exogenous testosterone has increasingly been used to treat young adolescents diagnosed with klinefelter syndrome and documented androgen deficiency. Although testosterone replacement in adult patients has been associated with prostatic enlargement, it remains unknown whether chronic supplementation of exogenous testosterone to pubescent males with hypogonadism results in early prostate carcinogenesis. We report a first case of prostate cancer in a patient with klinefelter syndrome who had undergone long-term testosterone replacement therapy since childhood for chronically depressed levels of testosterone.- - - - - - - - - - ranking = 1.397773196544keywords = cancer (Clic here for more details about this article) |
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