SRY-NEGATIVE TRUE HERMAPHRODITES AND AN XX MALE IN 2 GENERATIONS OF THE SAME FAMILY

Two 46,XX true hermaphrodites and one XX male without genital ambiguit ies are reported. They coexist in two generations of the same pedigree , with paternal transmission and in the absence of SRY (sex-determinin g region, Y chromosome). These familial cases provide evidence to supp ort the hypothesis that these disorders are alternative manifestations of the same genetic defect, probably an autosomal dominant mutation ( with incomplete penetrance) or an X-linked mutation (limited by the pr esence of the Y chromosome).