1/3. 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 = 1keywords = life (Clic here for more details about this article) |
2/3. Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants.gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
3/3. Neonatal genital reconstruction.It is evident from studies of boys who suffered a surgical catastrophe at a young age and were then assigned a female sex role that cultural and environmental influence are a potent determinant of a child's gender identity. It is imperative that parents have their child's sex assignment firmly fixed in their minds as early as possible. Early surgical correction of a child with ambiguous genitalia to conform to the sex of assignment will serve greatly to reinforce appropriate behavior in the parent. Such surgical intervention for diagnostic and reconstructive purposes is both desirable and safe in the first weeks of life.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |