Two XX male infants with ambiguous genitalia.
Two infants with ambiguous genitalia were recognised to have XX male syndrome. The propositi had penile abnormalities and hypospadias. Testes were present. G-banded karyotypes of the subjects did not confirm the presence of Y chromosome or a part thereof in the form of translocation. Various theories regarding the presence of testes in the apparent absence of Y chromosome are reviewed.
D002675:Child, Preschool; D005260:Female; D005835:Genitalia / Q000033:anatomy & histology*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008297:Male; D010413:Penis / Q000002:abnormalities; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome