PMID: 991437Nov 1, 1976Paper

True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case

Clinical Genetics
M De MarchiG Palestro


A case of true hermaphroditism with 46, XX/46, XY karyotype is reported. The propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes. Periodic menstrual bleedings appeared at puberty. The endocrinologic data demonstrated the secretory activity of both the ovarian and the testicular tissue. The analysis of red cell, lymphocyte and serum markers, done on the propositus and on his parents, failed to show any evidence of double fertilization. On this basis, the origin of the XX/XY condition (mosaicism versus chimerism) and its developmental consequences are discussed.


Jul 1, 1974·Annals of Human Genetics·A De la ChapelleE B Robson
Jun 15, 1972·American Journal of Obstetrics and Gynecology·K BenirschkeF H Allen
Jan 1, 1969·British Medical Bulletin·C E Ford
Dec 1, 1970·Journal of Medical Genetics·P H FitzgeraldH B Angus
Jun 1, 1969·Archives of Disease in Childhood·W A Marshall, J M Tanner
Jan 1, 1965·The Journal of Clinical Endocrinology and Metabolism·N JOSSOM LAMY
Sep 4, 1965·Lancet·M RIBAS MUNDO, J PRATS

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Jan 1, 1979·Clinical Genetics·P H FitzgeraldR L Kirk
Apr 1, 1989·International Journal of Andrology·M BergmannE Nieschlag

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