Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development

摘要: Testicular dysgenesis derives from abnormal gonadal development caused by chromosome aberrations/mosaicisms or mutations/deletions in SRY other genes responsible for testicular differentiation. Dysgenetic male pseudohaermaphroditism has bilateral dysgenetic testes characterized a cortical network of anastomosing seminiferous cords that penetrate thin albuginea. In asymmetric differentiation (or Mixed Gonadal Dysgenesis) testis associates with streak gonad primitive sex embedded an ovarian-like stroma. Uni- ovotestes identify true haermaphroditism. Fluorescent situ hybridisation studies demonstrate the chromosomes mosaic patients do not distribute homogeneously gonads. 45,X lines predominate over 46,XY gonads, while relationship between these two is more equivalent testes, suggesting related to balance X0 and XY lines. dys-genesis severe when there frank predominance XX cells. Higher percentages cells coincide lesser degrees dysgenesis. DNA densitometry indicate higher incidence neoplastic transformation than previously anticipated. Various specimens showed clear aneuploid histograms but no indication cytological CIS phenotype. There was wide variation germ cells, ranging normally looking big infantile spermatogonia gonocyte/CIS Aneuploidy probably precedes full expression case doubt we recommend either confirm discard their nature. The earliest recognizable change cell tumorigenesis polyploidisation fetal followed phenotype isolated scattered along tubules later proliferate give adult type pattern.