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True hermaphroditism
A M Walker1, J L Walker, S Adams
1Department of Paediatric Endocrinology, Sydney Children's Hospital, Randwick, NSW, Australia.
Objective:
True hermaphroditism is a rare cause of atypical genitalia which presents significant diagnostic and management challenges. We present the clinical and laboratory findings and management of four patients with true hermaphroditism.
Methodology:
Case studies from a teaching hospital and literature review.
Results:
All four patients had atypical genitalia identified at birth. All had a palpable gonad, only one of which was palpable at birth. Three patients were 46XX (SRY -ve) and one 46XY (SRY +ve). Three patients were raised as females (two 46XX and one 46XY) and one as a male. All four patients were found to have an ovotestis present.
Conclusions:
The management of true hermaphroditism is controversial and requires a multidisciplinary approach. It has many implications for both the parent and child. We discuss the issues involved for the patients and their parents.