COMBINED LEYDIG-CELL AND SERTOLI-CELL DYSFUNCTION IN 46,XX MALES LACKING THE SEX-DETERMINING REGION Y-GENE

We have evaluated 3 individuals with a rare form of 46,XX sex reversal . Ah of them had ambiguous external genitalia and mixed wolffian and m ullerian structures, indicating both Leydig cell and Sertoli cell dysf unction, similar to that of patients with true hermaphroditism. Howeve r, gonadal tissue was not ovotesticular but testicular with varying de grees of dysgenesis, SRY sequences were absent in genomic DNA from per ipheral leukocytes in all 3 subjects, Y centromere sequences were also absent, indicating that testis development did not occur because of a low level mosaicism of Y bearing cells. The subjects in this report d emonstrate that there is a continuum in the extent of testis determina tion in SRY-negative 46,XX sex reversal, ranging from nearly normal to minimal testicular development. (C) 1995 Wiley-Liss, Inc.