Familial disorder of sex determination in seven individuals from three related sibships

In humans, the sex of an individual is determined by the Y-chromosome-relat ed SRY gene, which causes the differentiation of the undifferentiated gonad s into testicular tissue, True hermaphrodites without a Y chromosome and XX males represent a sex determination error in which testicular tissue devel ops despite the absence of the SRY gene. Familial forms of XX true hermaphr odites and XX males exist in the literature, which also contains the two fo rms co-existing in the same family. in this report, we present a large fami ly with seven affected individuals with phenotypes ranging from XX male to XX true hermaphrodite with predominance of female characteristics. We sugge st that XX maleness and XX true hermaphroditism represent a continuum of th e same disorder. We speculate on the mode of inheritance of this disorder i n this particular family.