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  • Title: Genetic heterogeneity in true hermaphrodites. A report of two cases.
    Author: Kucheria K, Mohapatra I, Taneja N, Gupta DK, Ammini AC.
    Journal: J Reprod Med; 1994 Jul; 39(7):550-2. PubMed ID: 7966049.
    Abstract:
    True hermaphrodites are identified from the presence of ambiguous genitalia with both ovarian and testicular tissue. Two cases presented below had a 46,XX chromosome pattern, cryptorchidism and undescended testes. Both cases showed an absence of secondary sexual characteristics and presence of bilateral breasts and a uterus. The gonads in case 1 were an ovotestis and testis (left side) and in case 2 were an ovary and testis (right side). Case 1 was analyzed for a sex-determining region on the Y chromosome (SRY) and was negative. Phenotypic, gonadal and molecular studies suggest that 46,XX true hermaphroditism is a genetically heterogeneous condition.
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