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Genetic heterogeneity in true hermaphrodites. A report of two cases.

Kiran Kucheria,I Mohapatra,Narinder Taneja,D K Gupta,A.C. Ammini-1994-07-01-PubMed
2

TL;DRAbstract

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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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.

Keywords

OvotestisTrue hermaphroditismTestis determining factorGonadOvarySecondary sex characteristicUterusBiology

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