Cancer risk in delaying sex assignment surgery

An editorial and a case report on Disorders of Sexual Development (DSD) in the Medical Journal of Australia highlight the need for early diagnosis and effective risk management in these rare but potentially life threatening cases.

DSD describes conditions in which patients are born with ambiguous genitalia; DSD were previously described by terms such as ‘intersex’, ‘hermaphroditism’ and ‘testicular feminisation’.

In the editorial, endocrinologists from Melbourne’s Royal Children’s Hospital, Dr Garry Warne and Dr Jacqueline Hewitt, discuss the sometimes contentious management of the disorder, and call for the preparation of separate risk management strategies for individual patients.

“International debate continues about the ethics of performing genital surgery on affected infants and children,” Dr Warne said.

“The option to assign a gender but postpone surgery until the child is able to give consent has been strongly advocated in some quarters, but hasn’t gained wide acceptance because of concerns that children might suffer psychological harm if left with ambiguous genitalia.

“Another dilemma in delaying sex-assignment surgery is the increased risk of gonadal malignancy. what has largely been missing from the debate is recognition that surgery forms a necessary part of the risk management strategy for preventing gonadal malignancy.”

Gonadal malignancy proved fatal in a case detailed in the MJA by Dr Jim Parker (et al) from the University of Western Sydney.

The case was of a 59 year old man who presented with previously undiagnosed DSD. Internal investigations for a related complaint revealed a normally formed uterus and an abdominal gonad with an advanced malignancy.

The uterus and gonad were surgically removed, and the patient was treated postoperatively with chemotherapy, but died 18 months later.

Dr Warne said the tragic case highlighted the need for accurate diagnosis and early monitoring and care from a multidisciplinary team.

“The means for accurate diagnosis are improving with the development of microarray technology that offers an exciting and promising advance in identifying genetic mutations,” Dr Warne said.