The aetiology of XX true hermaphroditism in the southern African black population

Padoa, Carolyn Jane
Journal Title
Journal ISSN
Volume Title
A true hermaphrodite is an individual in whom both testicular and ovarian tissue is present, The tissues may be present in the same gonad, an ovotestis, or as separate gonads, an ovary and testis. Twenty nine southern African black patients were investigated in an attempt to determine the molecular aetiology of this disorder. The most common karyotype observed in 20 subjects tested was 46,XX (19/20). Roughly half the hermaphrodites were reared as males and the other half as females. The testicular tissue of the hermaphrodites was histologically immature, but in contrast, the appearance of the ovaries was normal. Nearly 80% of the 24 true hermaphrodites (on whom histopathology reports were available) had an ovotestis on one or both sides of the body. The ovotestis was the most common gonad (58.70%) while the testis was found least frequently (13.04%). The ovotestis and testis occurred more frequently on the right side of the body whereas the ovary was predominantly situated on the left side. A minimum incidence of 1 in 40 070 was calculated for XX true hermaphroditism in the South African black population with a minimum of 27 babies expected to be born each year with the disorder.