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

  title={45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism},
  author={K. Nieto and Roc{\'i}o Pe{\~n}a and {\'I}cela Palma and L. Dorantes and L. Era{\~n}a and Rebeca Alvarez and R. Garc{\'i}a-Cavazos and S. Kofman‐Alfaro and G. Queipo},
  journal={American Journal of Medical Genetics Part A},
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… Expand
6 Citations


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