45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

@article{Nieto200445X47XXX47XXDM,
  title={45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.},
  author={Karem Nieto and Roc{\'i}o Pe{\~n}a and Icela Palma and Luis M. Dorantes and Luis Era{\~n}a and Rebeca Higuera {\'A}lvarez and Ricardo J. Garcia-Cavazos and Susana H Kofman-Alfaro and G Queipo},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={130A 3},
  pages={311-4}
}
Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual. Genetic heterogeneity… CONTINUE READING