True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case.
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.
D002648:Child; D012734:Disorders of Sex Development / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006680:HLA Antigens; D006801:Humans; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012730:Sex Chromosomes; D013737:Testis / Q000473:pathology
D006680:HLA Antigens