TRUE HERMAPHRODITISM OR GONADAL INTERSEXUALITY - CYTOGENETIC AND GONADAL ANALYSES OF 5 NEW EXAMPLES RELATED TO 67 KNOWN CASES STUDIED CYTOGENETICALLY

The presence of both testicular tissue and ovarian tissue with follicles in the same individual (true hermaphroditism or gonadal intersexuality) is a rare condition. Since the introduction of chromosome studies only 67 well-documented cases have been reported. In this paper we review the clinical, gonadal, and cytogenetic findings in all those cases and describe fully our own series of 5 patients. Though there was wide variation in the form of the external and internal genitalia, 40.5% of cases conformed to urogenital Type IV, with enlarged phallus, bifid scrotum, perineal urethral orifice, vagino-urethral fistula, and uterus. The majority (72.5%) had at least one ovotestis, or testis and ovary on the same side. Testicular tissue, often with reduced germ cells, was more frequently observed on the right, the difference being statistically significant. Chromosomally more than half (53.5%) were normal females (46, XX), 12.5% were normal males (46, XY), and most of the remainder (32.5%) were sex chromosome mosaics. The last included a significant proportion of 46, XX/46, XY and 46, XX/47, XXY mosaics, though not all individuals with these karyotypes are true hermaphrodites. Our own series included a 46, XX; a 46, XY; a 46, XX/47, XXY mosaic; a 46, XY with an unusual familial group C marker in which the uncoiled secondary constriction region may be duplicated; and finally a mosaic with possible XO/XXp mosaicism combined with a t(Y: G) translocation. Abnormal karyotypes noted in the literature are reviewed and the possibility of translocations involving the Y chromosome are discussed. Known cases of Y-autosome translocations are surveyed, but one case in this report appears to be the sole true hermaphrodite to have this type of translocation.