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Disorders of sex development: current understanding and continuing controversy

Garry L Warne and Jacqueline K Hewitt
Med J Aust 2009; 190 (11): . || doi: 10.5694/j.1326-5377.2009.tb02586.x
Published online: 1 June 2009

One of the dilemmas in delaying sex-assignment surgery is the increased risk of gonadal malignancy

Few areas of medicine are as controversial as the management of disorders of sex development (DSD). The use of the term DSD to describe patients born with ambiguous genitalia has undergone major change from older terms with negative connotations, such as “intersex”, “testicular feminisation” and “hermaphroditism”.1 Meanwhile, international debate continues about the ethics of performing genital surgery on affected infants and children. In fact, the debate has been raging for more than a decade between the medical profession and patient advocacy groups in Western countries, and has been documented by anthropologist Katrina Karkazis in a recent book.2 A long-term outcome study of 50 patients aged 18–32 years who had been treated in Melbourne when they were children showed that mental and physical health outcomes were as good for most of the DSD patients as for those in two control groups; however, there was a small minority of patients whose gender identity as adults was a source of such profound discomfort that they felt compelled to undergo treatment to change it.3 Clearly, this is unsatisfactory, and management practices have been reviewed internationally by clinicians looking for ways of minimising the risk of making such mistakes about gender assignment.


  • Department of Endocrinology and Diabetes, Royal Children’s Hospital, Melbourne, VIC.


Correspondence: garry.warne@rch.org.au

  • 1. Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 2008; 22: 119-134.
  • 2. Karkazis K. Fixing sex: intersex, medical authority, and lived experience. London: Duke University Press, 2008.
  • 3. Warne G, Grover S, Hutson J, et al. A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 2005; 18: 555-567.
  • 4. Cohen-Kettenis P. Psychological long-term outcome in intersex conditions. Horm Res 2005; 64 Suppl 2: 27-30.
  • 5. Migeon CJ, Wisniewski AB, Gearhart JP, et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics 2002; 110: e31.
  • 6. Diamond M. Pediatric management of ambiguous and traumatized genitalia. J Urol 1999; 162: 1021-1028.
  • 7. Looijenga LH, Hersmus R, Oosterhuis JW, et al. Tumour risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab 2007; 21: 480-495.
  • 8. Parker JL, Ekman DL, Hayden LJ. Hysterectomy in a phenotypic male with advanced gonadal malignancy and intersex. Med J Aust 2009; 190: 644-646. <MJA full text>
  • 9. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554-563.
  • 10. Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf) 2009; 70: 173-187.
  • 11. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009; 1151: 157-166.

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