1/101. risk of gonadoblastoma in female patients with y chromosome abnormalities and dysgenetic gonads.We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the y chromosome. Conventional karyotyping was supplemented with fluorescent in situ hybridisation techniques in order to confirm the presence of Y chromosomes. One patient is a phenotypic female with karyotype 45,X/46,X,idic(Y)(q11.2). She underwent a laparoscopic gonadectomy at which streak ovaries without evidence of gonadoblastoma were removed. The second patient presented as a virilised female with karyotype 45,X/47,XYY. At laparoscopy, she was found to have mixed gonadal dysgenesis with a gonadoblastoma in situ. We recommend early gonadectomy in female children presenting with gonadal dysgenesis and the presence of a y chromosome although once the gonadoblastoma locus on y chromosome gene has been cloned it may be possible to identify those patients who have a low risk of developing gonadoblastoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/101. Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome.Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X, mar karyotype, who developed a unilateral microscopic gonadoblastoma. Cytogenetic and molecular analysis confirmed a Y-chromosomal origin of the marker chromosome, with a deletion of the distal Yq arm and the proposed region of a so far undefined gonadoblastoma locus (GBY) present. One of the candidate genes within the postulated GBY region is TSPY (testis-specific protein Y-encoded). To study the TSPY protein expression, an anti-fusion protein antibody was used for immunohistochemistry of the patient's gonads. In contrast to the dysgenetic gonad, an intense immunoreaction was found in gonadoblastoma tumour cells of the other gonad. These results confirm the high level of TSPY protein expression by these cells and demonstrate the value of this antibody as an additional marker to confirm the diagnosis of gonadoblastoma.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
3/101. Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.The authors report on a child with indifferent external genitalia consisting of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female karyotype, homozygous 21-hydroxylase deficiency, and excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altogether causing this unusual phenotype. In addition, the girl suffered from skeletal anomalies consistent with the diagnosis of Antley-Bixler syndrome. Our case shows that, although the association of congenital adrenal hyperplasia with other syndromes is rare, and even if other possible reasons for in utero virilization are present, complete diagnostic workup including karyotyping and hormonal status should be done in all patients with ambiguous genitalia, especially in cases of an unusual phenotype. The authors report on the diagnostic procedures and discuss the surgical approach in this particular case, never described before in the literature.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
4/101. False-positive pregnancy test associated with gonadoblastoma.Gonadoblastomas are known to be hormonally active tumors that occur in streak or dysgenetic gonads of patients with intersex abnormalities. Several reports document their ability to produce beta-human chorionic gonadotropin (HCG), but none have documented an elevated peripheral serum beta-HCG. We report on the case of a patient with pure gonadal dysgenesis with XY karyotype who was found to have an elevated peripheral serum beta-HCG after a positive pregnancy test. knowledge of gonadoblastoma's potential to elevate serum beta-HCG levels may prevent unnecessary searches for other causes.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
5/101. Ovarian gonadoblastoma with mixed germ cell tumor in a woman with 46, XX karyotype and successful pregnancies.An extremely rare case of unilateral gonadoblastoma with mixed germ cell tumor arising in the ovary of a 27-year-old woman with 46,XX karyotype and two successful pregnancies is reported. The mixed germ cell tumor was composed of choriocarcinoma, embryonal carcinoma, yolk sac tumor, immature teratoma and dysgerminoma. The patient has been well, without evidence of disease for over 10 years since her first surgery and adjuvant chemotherapy.- - - - - - - - - - ranking = 2.5keywords = karyotype (Clic here for more details about this article) |
6/101. 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 = 1.5keywords = karyotype (Clic here for more details about this article) |
7/101. Establishment and characterization of a steroidogenic human granulosa-like tumor cell line, KGN, that expresses functional follicle-stimulating hormone receptor.We established a steroidogenic human ovarian granulosa-like tumor cell line, designated KGN, from a patient with invasive ovarian granulosa cell carcinoma. KGN had a relatively long population doubling time of about 46.4 h and had an abnormal karyotype of 45,XX, 7q-, -22. A steroid analysis of the cultured medium by RIA performed 5 yr after the initiation of culture showed that KGN was able to secrete pregnenolone and progesterone, and both dramatically increased after stimulation with (Bu)(2)cAMP. However, little or no secretion of 17alpha-hydroxylated steroids, dehydroepiandrosterone, androstenedione, or estradiol was observed. The aromatase activity of KGN was relatively high and was further stimulated by (Bu)(2)cAMP or FSH. These findings showed a pattern similar to that of steroidogenesis in human granulosa cells, thus allowing analysis of naturally occurring steroidogenesis in human granulosa cells. Fas-mediated apoptosis of KGN was also observed, which mimicked the physiological regulation of apoptosis in normal human granulosa cells. Based on these findings, this cell line is considered to be a very useful model for understanding the regulation of steroidogenesis, cell growth, and apoptosis in human granulosa cells.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
8/101. Chromosome analysis and comparison of the benign cystic and malignant squamous component of an ovarian teratoma.teratoma, the most common ovarian germ-cell tumor, presumably arises from a single germ cell and is composed of tissues representing all germ layers (ectoderm, mesoderm, and endoderm). Benign cystic teratomas (dermoid cyst) represent over 95% of ovarian teratomas and are comprised of entirely mature adult tissues. When malignant, almost all mature teratomas contain squamous carcinoma. We report for the first time the karyotypic comparison of an ovarian teratoma in a 36-year-old female with tissue separately taken from the benign cystic and malignant squamous components. The malignant squamous component revealed two distinct karyotypic populations: one diploid and the other polyploid. Both, however, demonstrated two common markers. The polyploid population also demonstrated numerous additional abnormalities with multiple copies of chromosome 20. Though many of the chromosomal aberrations were unique to the benign component, several karyotypes showed the same markers noted in the malignant squamous component. The significance of this finding is that it may serve to identify those histologically benign teratomas destined to undergo malignant transformation.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
9/101. Biovularity and "coalescence of primary follicles" in ovaries with mature teratomas.Several theories have been postulated regarding the origin of ovarian teratomas, including incomplete twinning, neoplastic proliferation of sequestered totipotent blastomeres or primordial cells, derepression of totipotent genetic information in the nuclei of somatic cells, and parthenogenetic development of germ cells. At present parthenogenetic development of ova is the most widely accepted theory, primarily because of the presence of a 46 XX karyotype in almost all mature teratomas. However, some authors have raised the possibility of fusion of ova in the mechanism of formation of ovarian teratomas. We report the results of a study on ovarian tissue adjacent to 31 teratomas to assess the frequency of biovularity, which could provide evidence favoring the last theory. On the whole we found biovularity in 26 ovaries of young patients (mean age, 27 years) with variable numbers of biovular follicles ranging from 1 in 4 cases to more than 10 in 2 cases; the number of biovular follicles depended on the quantity of ovarian tissue examined as well as on the total number of ova in the tissue. In multiple occasions 2 ova were included within a single follicle; in 24 ovaries the biovularity was correlated with coalescence of primary follicles characterized morphologically by an ovoid or hourglass-like shape that resulted from cohesion of 2 follicles. As control cases, 30 ovaries of patients with an average age of 28 years were examined (12 removed for endometriosis, 8 for serous cystadenoma, 7 for tubal pregnancy, and 3 for acute salpingo-oophoritis). Only 1 ovary with endometriosis contained a single biovular follicle. The results suggest that ovarian teratoma development may result from fusion of ova in ovaries containing biovularity and phenomena of coalescence of primary follicles.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
10/101. Comprehensive cytogenetic evaluation of a mature ovarian teratoma case.Mature ovarian teratomas are benign ovarian germ cell tumors that usually present with a normal karyotype. There are very few reports describing chromosomal abnormalities in these tumors, none of which are recurrent. In this study we report on a mature teratoma case with clonal chromosomal alterations which include monosomies of chromosomes 6, 14, 16, and 21; trisomies of chromosomes 14 and 21; and deletions of Xq, 5p, 16p, and 17p. comparative genomic hybridization evaluation of the sample revealed a normal profile. These findings are discussed together with the cytogenetic reports on other cases of ovarian teratomas described in the literature.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
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