Abstract
Two 46,XX true hermaphrodites and one XX male without genital ambiguities are reported. They coexist in two generations of the same pedigree, with paternal transmission and in the absence of SRY (sex-determining region, Y chromosome). These familial cases provide evidence to support 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 presence of the Y chromosome).
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Ramos, E.S., Moreira-Filho, C.A., Vicente, Y.A.M.V.A. et al. SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum Genet 97, 596–598 (1996). https://doi.org/10.1007/BF02281867
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DOI: https://doi.org/10.1007/BF02281867