1/49. 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 = 1keywords = gonadoblastoma (Clic here for more details about this article) |
2/49. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to contain a gonadoblastoma. dna analysis showed that the proposed critical region of the gonadoblastoma locus on the y chromosome was contained within the patient's idic (Y). Conclusion. The case described here shows that patients with 45,X/46,X, isodicentric (Yp) mosaicism and a female phenotype (1) can lack external virilisation but still have a gonadoblastoma and (2) do not necessarily have Turner stigmata but can present with only short stature. This case also underlines the importance of karyotyping patients with unexplained short stature to enable gonadectomy if Y-derived material is detected.- - - - - - - - - - ranking = 0.875keywords = gonadoblastoma (Clic here for more details about this article) |
3/49. Effectiveness of laparoscopic gonadectomy using abdominal wall lift method on Turner's syndrome patients with 45, X/46, XY mosaicism.We present a Turner's syndrome patient with a 45, X/46, XY mosaicism who underwent a prophylactic laparoscopic gonadectomy using the abdominal wall lift method. The patient was a 14-year-old phenotypic girl who was referred for an examination of primary amenorrhea. She had already been found to have Turner's syndrome with 45, X/46, XY mosaicism. After an extensive discussion with the patient and her family regarding her high risk for developing a gonadoblastoma, a laparoscopic bilateral salpingo-oophorectomy using the abdominal wall-life method was performed. laparoscopy using the abdominal wall lift method has an advantage over CO2 pneumoperitoneum method for patients with Turner's syndrome when it is difficult to intubate because of a webbed neck or a shortened trachea.- - - - - - - - - - ranking = 0.125keywords = gonadoblastoma (Clic here for more details about this article) |
4/49. sex chromosome mosaicism of X/XY or X/XY/XYY.To date, we have studied 7 patients with X/XY mosaicism, one of whom showed an X/XY/XYY pattern. Four patients presented as newly born infants because of incomplete male development, ambiguity of external genitalia or turner syndrome. The other 3 patients presented in midchildhood or early adult life. Bilateral gonadectomy, histologic examination of the gonads for tumor or testicular tissue, and chromosome analysis from blood and gonad specimens (and usually skin) were done in these 7 patients. The Y cell line and mosaicism were always detected in the blood culture although the predominant cell line in the majority of tissues was 45,X. The y chromosome in one of the patients failed to show the expected bright fluorescence over the long arm, and the y chromosome of another patient previously reported had a terminal nonfluorescing portion of the long arm. patients with masculinization showed normal height and, on laparotomy, mixed gonadal dysgenesis. patients with turner syndrome showed bilateral streak gonads (2) and, in one 2 1/2-year-old girl, a bilateral gonadoblastoma. All patients with turner syndrome were less than the third percentile in height. All 7 patients were reared as female, 4 of them requiring surgery to diminish the size of the clitoris. All 7 patients appeared to be developing normally. Nonrecognition or delay of the diagnosis, which still occurs in this condition, appears to be a result of the mild physical abnormalities in some patients and a clinical diagnosis of turner syndrome supported only by a negative X-chromatin result.- - - - - - - - - - ranking = 0.125keywords = gonadoblastoma (Clic here for more details about this article) |
5/49. 45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia.45,XO/46,XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma. The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.- - - - - - - - - - ranking = 0.125keywords = gonadoblastoma (Clic here for more details about this article) |
6/49. Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis.A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals.- - - - - - - - - - ranking = 0.25keywords = gonadoblastoma (Clic here for more details about this article) |
7/49. dysgerminoma in Turner's syndrome.The importance of the Y-chromosome for the germ cell tumour development in gonadal dysgenesis has been emphasized many times. In contrast, only two cases of dysgerminoma or gonadoblastoma had been published so far in the XO-Turner's syndrome. With this report, another case of Turner's syndrome developing a dysgerminoma in a gonadal streak is presented. No Y-chromosome containing stemline could be detected in the patient nor in the tumour. A primary genetic etiology or a mechanism related to early secondary regression or dysgenesis of the gonad are discussed as causative factors in germ cell tumour development within gonadal streaks.- - - - - - - - - - ranking = 0.125keywords = gonadoblastoma (Clic here for more details about this article) |
8/49. Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma.Determinations of multiple steroids were made on ovarian and peripheral blood in a 46,XY patient with bilateral gonadoblastoma. The right gonadoblastoma had undergone complete calcific ablation. The principal viable cellular elements in the left gonadoblastoma were leydig cells. Except for a borderline increase over peripheral levels of estradiol, the degenerated right tumor mass showed no evidence of endocrine activity. Venous blood emanating from the left cellular gonadoblastoma exhibited significant elevations of testosterone, progesterone, and estradiol as compared to peripheral blood. Viable sex cord elements were present in the left tumor mass but did not exhibit sufficient steroid activity to have demonstrable clinical manifestations.- - - - - - - - - - ranking = 1keywords = gonadoblastoma (Clic here for more details about this article) |
9/49. Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.In few cases of turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X dic (Y; 5)(q12; q11), 5/46,X, der (Y), which was detected by conventional G-banding and multicolor spectral karyotyping. She underwent laparoscopic gonadectomy in which mixed gonadal dysgenesis was found and both gonads were removed. No evidence of gonadoblastoma was noted on the gonads. Virilization improved postoperatively. We recommend gonadectomy via laparoscope in women presenting with Turner-like phenotype, virilization and the presence of a y chromosome. This report describes the role of cytogenetic and molecular genetic investigations in the definition of mosaicism in turner syndrome.- - - - - - - - - - ranking = 0.125keywords = gonadoblastoma (Clic here for more details about this article) |
10/49. 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 = 0.25keywords = gonadoblastoma (Clic here for more details about this article) |
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