Cases reported "Klinefelter Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/64. 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.
- - - - - - - - - -
ranking = 1
keywords = germ
(Clic here for more details about this article)

2/64. 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 = 0.14285714285714
keywords = germ
(Clic here for more details about this article)

3/64. A variant klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.

    klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = germ
(Clic here for more details about this article)

4/64. 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 = 0.28571428571429
keywords = germ
(Clic here for more details about this article)

5/64. 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 = 0.28571428571429
keywords = germ
(Clic here for more details about this article)

6/64. 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 = 0.71428571428571
keywords = germ
(Clic here for more details about this article)

7/64. Primary spinal germinoma in a patient with concomitant Klinefelter's syndrome.

    It is known that patients with Klinefelter's syndrome are inclined to develop concomitant malignant tumours, as well as extragonadal germ cell tumours. The association of a primary spinal germinoma in a patient with Klinefelter's syndrome is reported for the first time, and the coincidence of elevated gonadotropin levels and oncogenesis is discussed.
- - - - - - - - - -
ranking = 0.85714285714286
keywords = germ
(Clic here for more details about this article)

8/64. An autopsy case of Klinefelter's syndrome suspected and its DNA analysis.

    We experienced an autopsy case, small testes and tall stature, which suggested Klinefelter's syndrome. DNA analysis was performed to confirm the genetic abnormality. Case history: A 28-year-old man who was single and lived with his parents. He suddenly lost his consciousness in a sitting room and died. autopsy findings: He was 176 cm in height and 57 kg in weight. The post-mortem hypostasis was red-purple on his back, and rigor mortis was strong in each joint of the whole body. The heart weighted 340 g, in which dark red fluidal blood (300 ml) without coagulation was contained. The testes were smaller than normal adult male (left and right testes with epididymides weighted 8.1 g and 6.0 g, respectively). As a results of pathological examination, clumped leydig cells, sclerotic and hyalined tubules were observed. Some germ cells with spermatozoid were also present. DNA Analysis: Generally, Klinefelter's syndrome is determined by karyotype analysis and/or the detection of sex chromatin. However, in this case, karyotype analysis and the detection of sex chromatin could not be demonstrated, because the blood which was collected in the autopsy became too old. Therefore, we tried sex determination and STR analysis (HPRT, HUMARA and DXS 1470) using DNA extracted from stored blood materials. Consequently, in the sex determination, no different situation was found in the X- and Y-specific bands from normal male's and as results of STR analyses, we could not corroborate the Klinefelter's syndrome.
- - - - - - - - - -
ranking = 0.14285714285714
keywords = germ
(Clic here for more details about this article)

9/64. The dentofacial manifestations of XXXXY syndrome: a case report.

    This paper presents a six-year-old patient with XXXXY syndrome, whose oral findings included a cleft soft palate, hyper- or meso-taurodontism in eight primary molars and in the mandibular permanent first molars, five congenitally missing premolars, and delayed development of the permanent tooth germs. The maxillary and mandibular primary central incisors were in a cross-bite relationship. Cephalometric findings showed a short ramus of the mandible and a short maxilla in the anterioposterior plane. The anteroposterior jaw relationship was in harmony. The cross-bite was considered to be due to the retroinclination of the maxillary primary incisors. This case emphasises the importance of regular dental care, and monitoring of facial growth and dental development in children with XXXXY syndrome.
- - - - - - - - - -
ranking = 0.14365515578519
keywords = germ, tooth
(Clic here for more details about this article)

10/64. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization.

    Meiotic studies using multicolour fluorescent in-situ hybridization (FISH) and chromosome painting were carried out in three patients with sex chromosome anomalies (47,XXY; 46,XY/47,XXY and 47,XYY). In the two patients with klinefelter syndrome, although variable percentages of XXY cells (88.5 and 28.3%) could be found in the pre-meiotic stages, none of the abnormal cells entered meiosis, and all pachytenes were XY. However, the abnormal testicular environment of these patients probably resulted in meiotic I non-disjunction, and a certain proportion of post-reductional cells were XY (18.3 and 1.7%). The fact that none of the spermatozoa were XY also suggests the existence of an arrest at the secondary spermatocyte or the spermatid level. In the XYY patient, most (95.9%) premeiotic cells were XYY. The percentage of XYY pachytenes was 57.9%. The sex chromosomes were either in close proximity (XYY) or the X chromosome was separated from the two Ys (X YY). A high proportion (42.1%) of post-reductional germ cells were XY. However, only 0.11% of spermatozoa were disomic for the sex chromosomes. In this case, the data suggest the existence of an arrest of the abnormal cells at the primary and the secondary spermatocyte or the spermatid level, giving rise to the continuous elimination of abnormal cells in the germ-cell line along spermatogenesis. The fact that the proportion of diploid spermatozoa was only increased in one of the three cases (XXY) is also suggestive of an arrest of the abnormal cell lines in these patients. The two apparently non-mosaic patients were, in fact, germ-cell mosaics. This suggests that the cytogenetic criteria used to define non-mosaic patients may be inadequate; thus, the risk of intracytoplasmic sperm injection in apparently non-mosaics may be lower than expected.
- - - - - - - - - -
ranking = 0.42857142857143
keywords = germ
(Clic here for more details about this article)
| Next ->


Leave a message about 'Klinefelter Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.