DETECTION PF Y-SPECIFIC DNA SEQUENCES AND H-Y ANTIGEN EXPRESSION IN XY INDIVIDUALS WITH DISGENETIC GONADS DEVELOPMENT

Abstract

We studied four patients with 46,XY karyotype and disgenetic gonads. Two of them (M.F., S.P.) are affected by XY gonadal dysgenesis (Swyer's syndrome) with eunuchoid habitus, female external genitalia and streak gonads. One (R.M.) had mixed gonadal dysgenesis (rudimentary testis on the R and a contralateral streak gonad) and one (M.R.) with perineal hypospadias, had disgenetic gonads (streak on the R. and rudimentary testis in the L, both with gonadoblastoma). All patients had Mullerian duct derivatives. Clinical, endocrine and serologic data, as well as DNA hybridization results using ZFY probe, Page et al. Cell. 51: 1091, 1987) are shown in the Table.The patients with XY gonadal dysgenesis have the Y-specific DNA sequences detected by ZFY probe, which correspond to a region encompassing the, so called, testis determining factor gene(TDF). These cases probably represent the autosomal recessive form of Swyer's syndrome (Two of them belonging to the H-Y negative form). The patient with mixed gonadal dysgenesis expresses H-Y antigen and has the ZFY sequence). Therefore, his condition is probably due to a delay in testicular organogenesis (as indicated by gonadal assymetry, with partial testicular differentiation on the R). The same situation could conceivably occur in the patient with bilateral gonadoblastoma. Altogether, our data suggest the involvement of other loci, besides TDF, in the primary determination of sex in man.This work was sponsored partially by a grant from FINEP-PADCT n° 43,84.0804