Background. The objective of this paper is to describe and conceptualize an unusual and probably rare condition: the intense longstanding desire to have an amputation.

Method. Structured interviews were conducted by telephone of 52 subjects (mean age: 48·6, range 23–77 years; 47 male, 4 female, 1 intersexed) self-identified as having had a desire to have an amputation.

Results. Seventeen per cent (n=9) had an arm or leg amputated with two-thirds using methods that put the subject at risk of death and one-third enlisting a surgeon to amputate their healthy limb. The most common reported reason for wanting an amputation was the subject's feeling that it would correct a mismatch between the person's anatomy and sense of his or her ‘true’ self (identity). None were delusional. For all but one subject age at onset was during childhood or early adolescence. For those who had psychotherapy or medication there was no change in the intensity of the desire for amputation. The six subjects who had an amputation at their desired site reported that following the amputation they felt better than they ever had and no longer had a desire for an amputation.

Conclusions. These preliminary results suggest the existence of an extremely unusual clinically distinct condition characterized by a lifelong desire to have an amputation of a particular limb. The condition is associated with serious negative consequences: amputation attempts, impairment and marked distress. Reflecting similarities between Gender Identity Disorder and this condition, the author suggests that it may be conceptualized as an unusual dysfunction in the development one's fundamental sense of anatomical (body) identity.