1/9. XY gonadal dysgenesis and the h-y antigen. Report on 12 cases.h-y antigen was determined in 12 patients affected by XY gonadal dysgenesis. Of these, three proved to be H-Y negative, and nine, including two sisters, were H-Y positive; two of the unrelated positive cases exhibited a reduced antigen titer. Therefore, this clinical condition must be genetically heterogeneous. It is assumed that in the negative cases and possibly in those with reduced antigen titer, the H-Y generating system is affected by mutation, while in the regular positive cases the target cells are unable to respond due to a defect of the gonad-specific h-y antigen receptor.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/9. Selective T-cell deficiency in Turner's syndrome.The case of a 29-year-old Caucasian woman with 45 X0 karyotype, known as Turner's syndrome, and a recently diagnosed selective T-cell deficiency is reported. The main clinical features of the patient were recurrent sinopulmonary infections and a negative skin test with seven common recall antigens. Laboratory findings included lymphocytopenia, highly elevated CD45RA/CD45R0 ratio, as well as reduced expression of the co-stimulatory molecules CD154, CD86, CD80 and CD28 on CD4 cells in combination with disturbed lymphocyte transformation in vitro. Markedly decreased levels of interleukin (IL)-2R, both on lymphocyte surface as well as the soluble analog, suggest a new form of x-linked immunodeficiency associated with Turner's syndrome.- - - - - - - - - - ranking = 0.125keywords = antigen (Clic here for more details about this article) |
3/9. Ovarian transplant: a new frontier.Two cases of orthotopic ovarian transplantations were performed on patients diagnosed to have Turner's syndrome (ovarian dysgenesis) with primary amenorrhea, short stature, and absent secondary sexual characters. Chromosomal analysis showed 45XO pattern. Both transplants were living related from a sister and from a mother. In both the cases the donor and the recipient were immunologically matched by blood group, histocompatibility antigens (HLA), and lymphocyte cross-match done twice. The donor ovaries were dissected extraperitoneally to have long vascular pedicles. In the first case the donor ovarian vein was sutured end-to-side to external iliac vein and the ovarian artery was sutured to the inferior epigastric artery end-to-end using an operative microscope. The ovary was placed in the orthotopic position transperitoneally. Follow-up for 2.5 years has shown regular menstruations, documented ovulations, rise in hormonal levels, and development of secondary sexual characters. In the second case there was no large vein available for anastomosis so that an avascular orthotopic transplantation was performed. The ovarian cortex was dissected in a fan-shaped manner of 0.5-cm strips. Two grafts sutured onto surgicel were placed orthotopically in the ovarian fossa and the remaining ones were placed into the broad ligament. One month follow-up shows good take-up and follicular development on USG, power-angio, and MRI. Hormonal rise has indicated functioning graft. immunosuppression was achieved in both cases using cyclosporine (4 mg/kg) and prednisolone (2 mg/kg).- - - - - - - - - - ranking = 0.125keywords = antigen (Clic here for more details about this article) |
4/9. The endocrinologic evaluation of a 45,X true hermaphrodite.A 13-year-old 45,X girl presented with spontaneous menses and the acute onset of progressive hirsutism. Complete endocrinologic evaluation of hirsutism was unremarkable. An exploratory laparotomy revealed a gonad containing ovarian and testicular tissue. Chromosome analysis from four different tissues confirmed the karyotype to be 45,X. She was h-y antigen positive.- - - - - - - - - - ranking = 0.125keywords = antigen (Clic here for more details about this article) |
5/9. h-y antigen and disorders of sexual differentiation.The process of sexual differentiation has been further clarified by the discovery of histocompatibility -Y(H-Y) antigen. A patient with abnormal sexual differentiation whose workup included testing for h-y antigen is presented. The discovery and clinical applicability of h-y antigen in intersex patients are presented.- - - - - - - - - - ranking = 0.875keywords = antigen (Clic here for more details about this article) |
6/9. h-y antigen in 46,XY pure testicular dysgenesis.Clinical, cytogenetic, pathologic, and histocompatibility-Y (H-Y) antigen studies were performed on a phenotype female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpinog-gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F-body (y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46,XY chromosome constitution (Q-banding). The data were consistent with a diagnosis of 46,XY pure testicular dysgenesis. Positive results for h-y antigen were found in this case.- - - - - - - - - - ranking = 0.75keywords = antigen (Clic here for more details about this article) |
7/9. Oocyte production in a turner syndrome patient with serologically detectable male antigen.A patient with a 45,X/46,X, ring (X) karyotype has been found with serologically detectable male antigen, functioning ovaries, and documented oocyte production.- - - - - - - - - - ranking = 0.625keywords = antigen (Clic here for more details about this article) |
8/9. Dicentric y chromosome arising via tandem translocation.We describe a 22-year-old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich-turner syndrome. There were three cell lines identified in peripheral blood lymphocytes - 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double-Y-chromatin bodies. lymphocytes were h-y antigen-negative. This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end-to-end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C-positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y-chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a y chromosome, even in the absence of h-y antigen.- - - - - - - - - - ranking = 0.25keywords = antigen (Clic here for more details about this article) |
9/9. h-y antigen in XO/X,iso(X) mosaic turner syndrome.Androgen excess, found occasionally in gonadal dysgenesis, may be associated with hilus cell hyperplasia within the gonadal streaks. This report describes a phenotypic female with turner syndrome, clitoromegaly, hilus cell hyperplasia, and a gonadal-to-peripheral venous step-down gradient for testosterone, androstenedione, and estradiol. cytogenetic analysis of cells from peripheral blood and both streak gonads revealed a mosaic karyotype, 45,X/46,X,iso(X). The isochromosome was a nonfused dicentric type (pter leads to q2105 leads to pter). Despite absence of the y chromosome, serologic analysis revealed the presence of h-y antigen, thereby suggesting occult Y chromosomal function in the patient's gonads.- - - - - - - - - - ranking = 0.625keywords = antigen (Clic here for more details about this article) |