H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism

A 42-year-old male had short stature, microphallus, hypospadias, a bifid scrotum, abdominal undifferentiated testes, a uterus, bilateral fallopian tubes, and 45,X/46,XYq-mosaicism in his blood, skin, and germinal tissue and tissue surrounding the testes as determined by means of G-, Q-, and C-banding. An H-Y antigen assay on skin fibroblasts was positive, indicating that the locus for this antigen is not located in the brightly fluorescent region of the Y chromosome.