1/61. pregnancy in a woman with a y chromosome after removal of an ovarian dysgerminoma.BACKGROUND: It appears to be a general belief that pregnancy might be impossible in women with the XY karyotype. Therefore, it is recommended that patients with dysgerminoma of the ovary associated with the XY karyotype should undergo a bilateral salpingo-oophorectomy. CASE: We report an extremely rare case of a true hermaphrodite with a 20% 46,XX/80% 46,XY karyotype who became pregnant after removal of an ovarian dysgerminoma. The patient had a completely normal female phenotype. A dysgerminoma with ovotestis was found in the right ovary. Two courses of chemotherapy following a right salpingo-oophorectomy were carried out. Nine months later she became pregnant and delivered a healthy male infant. CONCLUSION: A unilateral salpingo-oophorectomy followed by combination chemotherapy can be the treatment of choice for any woman who wishes to preserve her capacity for conception at the time of operation for dysgerminoma of the ovary.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/61. ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma.Although neoplasms are unusually frequent in patients with ataxia-telangiectasia, the occurrence of primary tumors of the ovary in such patients is exceedingly rare. This report describes a 17-year-old phenotypic female with ataxia-telangiectasia, who was found to harbor an ovarian gonadoblastoma and a contralateral dysgerminoma. The latter tumor has occurred in only one other patient with ataxia-telangiectasia, while an association with gonadoblastoma has never been documented previously. Additional unusual features rarely encountered in patients with gonadoblastoma included origin of the tumor within a histologically proven ovary, and a 46,XX karyotype. The possibility that the dysgerminoma also arose from a gonadoblastoma is discussed.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
3/61. gonadoblastoma in a true hermaphrodite with a 46,XX karyotype.Gonadoblastomas arise in dysgenetic gonads of individual possessing a y chromosome in their karyotype. This is the first report of a gonadoblastoma in a 46,XX true hermaphrodite.- - - - - - - - - - ranking = 1.6666666666667keywords = karyotype (Clic here for more details about this article) |
4/61. Germ cell neoplasms in three intersex patients with 46,XY karyotype.This report presents 3 cases with gonadoblastoma mixed with other germ cell tumours in intersex patients, all with a 46,XY karyotype. One 11-year-old patient was a true hermaphrodite, the others, aged 13 and 18, respectively, had both gonadal dysgenesis. Different clinical courses have been noted. Two patients had gonadoblastoma combined with dysgerminoma; in one of them a teratoma was also found. In the third case gonadoblastoma was transformed into teratocarcinoma. The malignant degeneration was more serious in the 2 pubertal patients. Thus, we recommend early and prophylactic gonadectomy.- - - - - - - - - - ranking = 1.6666666666667keywords = karyotype (Clic here for more details about this article) |
5/61. dna analysis of two patients with a non-fluorescent y chromosome.Results of dna study on two patients of gonadal dysgenesis with a 45,X/46,X,Ynf (non-fluorescent y chromosome) karyotype are described. In one patient who developed gonadoblastoma, all 12 loci on the non-fluorescent part of Yq were detected. Another patient did not have gonadoblastoma at 20 years, and only the proximal 6 loci out of 12 were detected.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
6/61. risk of malignancy in bilateral streak gonads: the role of the y chromosome.Although girls with Turner's syndrome (45,X) are not at risk for malignancy, patients with feminizing testicular syndrome with XY chromosome composition and patients with "mixed gonadal dysgenesis" are at risk for malignancy, and bilateral gonadectomy is performed. We have treated seven girls with "Turner-like" syndrome, who we believe are also "at risk" for development of malignancy and in whom gonadectomy should be performed. We present seven cases of phenotypically typical females, without sexual ambiguity, who presented with primary amenorrhea and short stature (5) and/or minor dysmorphic features (2). Chromosome analysis showed 45,X karyotype plus a fragment that we could not rule out as being part of a y chromosome (in one patient a complete y chromosome). In two patients, the fragment was subsequently positively identified as a Y, using a dna probe. In view of the known high incidence of development of gonadoblastoma in the dysgenetic gonads of phenotypic females with a y chromosome, bilateral gonadectomy was performed in these girls. Bilateral genital streaks with normal uterus and fallopian tubes were found in all patients. In two patients unsuspected gonadoblastoma, without metastases, was found. In five cases, Leydig cells and tubular structures resembling rete testes were found, cells that are associated with Y-chromosomal tissue. We stress the need for complete chromosomal evaluation of phenotypically female patients with primary amenorrhea or features of Turner's syndrome. If a y chromosome or the possibility of a y chromosome cannot be excluded, gonadectomy should be performed because of the risk of malignancy.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
7/61. Minute y chromosome derived marker in a child with gonadoblastoma: cytogenetic and dna studies.A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X, mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. dna analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
8/61. Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome.Dysgenetic streak gonads were removed laparoscopically from a phenotypic female with Swyer syndrome (ie, XY karyotype, sexual infantilism, primary amenorrhea, and mullerian structures). Pathologic examination revealed a small (3 mm) gonadoblastoma in one of her gonads without evidence of malignant transformation. The patient tolerated the procedure well and was back at work the next day. We propose that laparoscopy is a safe, cost-effective, and simple procedure to perform on individuals requiring prophylactic gonadectomy for the prevention of neoplasia.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
9/61. Pure XY gonadal dysgenesis presenting as secondary amenorrhea. A case report.Secondary amenorrhea developed after two years of normal menstruation. On investigation, the patient's karyotype was 46,XY, the serum testosterone and free androgen index were elevated, and bilateral gonadoblastomas and dysgerminomas were found in the gonads. The uterus, fallopian tubes and vagina were normal. The gonads were removed and chemotherapy given because of lymphadenopathy.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
10/61. Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic turner syndrome.An 8-year-old girl with some features of turner syndrome and karyotype 45X/46XY had developed a bilateral gonadoblastoma in her rudimentary ovaries. Her normal y chromosome showed the characteristic distal fluorescence, as seen in her father's. Another mosaic, this time 45X/46XidicY, and also with some Turner features had rudimentary ovaries, but no gonadoblastoma had developed at age 14. The nature of her idicY, which showed no fluorescent distal Yq and had one of the centromeres inactivated, was confirmed by in situ hybridisation with a Yp-specific probe. Using primers from a human Yp-specific sequence, we amplified dna extracted from paraffin-embedded ovarian tissue from both cases, and from a normal testicle and a normal ovary as controls. The finding of the expected Y-derived PCR product in the rudimentary gonads from these mosaic patients indicates the presence of their y chromosome in both. We discuss the validity of the findings, and the possible role of sequences in or near the fluorescent part of Yq in the origin of gonadoblastoma in Y-bearing mosaic turner syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = karyotype (Clic here for more details about this article) |
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