The aetiology of XX true hermaphroditism in the southern African black population
Date
2014-03-20
Authors
Padoa, Carolyn Jane
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Abstract
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.