H-Y Antigen Mosaicism in the Gonad of a 46,XX True Hermaphrodite

Stephen J. Winters, Stephen S. Wachtel, Beverly J. White, Gloria C. Koo, Nasser Javadpour, D. Lynn Loriaux, Richard J. Sherins

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To clarify the mechanism for the coexistence of ovarian and testicular tissue in the 46,XX true hermaphrodite, we studied a 20-year-old phenotypic male with gynecomastia and elevated serum concentrations of estradiol in whom an ovotestis was discovered upon scrotal exploration. Y chromosomal material could not be detected by fluorescent Y-body analysis or Giemsa-banding technics in cells cultured from peripheral blood, breast or forearm skin or the ovarian or testicular portions of the ovotestis. However, serologic testing, using the sperm cytotoxicity assay, revealed that cells cultured from the testicular portion of the ovotestis were H-Y antigen positive whereas cells cultured from the ovarian portion were H-Y antigen negative. These observations indicate that the ovotestis arises from an H-Y+/H-Y- mosaic primordium. (N Engl J Med 300:745–749, 1979) IN mammalian embryos with two X chromosomes, the indifferent gonad becomes an ovary, and subsequent development is female. In embryos with an X and a Y the gonad becomes a testis, and subsequent development is male. It should follow that true hermaphroditism (concurrence of ovarian and testicular tissue) is the natural consequence of XX/ XY chimerism or mosaicism. Yet the majority of true hermaphrodites have an XX sex-chromosome constitution with no evidence of mosaicism involving the Y. This situation raises questions about the putative sex-determining role of the Y chromosome and about mammalian sex determination in general. XX males and.

Original languageEnglish (US)
Pages (from-to)745-749
Number of pages5
JournalNew England Journal of Medicine
Issue number14
StatePublished - Apr 5 1979
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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