Apotemnophilia has been studied for a number of years to determine whether this disorder is actually neurological or psychological. However, in-depth research related to apotemnophilia and its correlation to the mind and body are still not clear. Recent research has shown small breakthroughs such that apotemnophiles are three times more likely to want removal of a left limb than right, in accordance with damage to the right parietal lobe, and also in concordance with sufferers of somatoparaphrenia; in addition, skin conductance response is significantly different above and below the line of desired amputation, and the line of desired amputation remains stable over time, with the desire often beginning in early childhood. Among a convenience sample of 52 apotemnophiles recruited from internet groups, the great majority wanted a single leg removed, cut above the knee. There are parallels between apotemnophilia as a motivation for body integrity identity disorder and autogynephilia as a motivation for some cases of male-to-female gender dysphoria.

A 2014 review concluded that

Apotemnophilia is a disorder characterized by the intense and long-standing desire for amputation of a specific limb. In recent years the word apotemnophilia has come to be seen to carry pejorative overtones, meaning as it does "a love of amputation" and implying that the condition is a sexual paraphilia. In an attempt to move towards a more neutral term for desiring an amputation McGeoch, Brang and Ramachandran proposed that the desire for an amputation be renamed "xenomelia", which derives from the Greek to mean foreign limb. Another term for the condition is body integrity identity disorder (BIID), but this has come to apply to not only those who desire an amputation but also those who want a range of disabilities including deafness, blindness and a spinal cord injury.

Apotemnophilia (xenomelia) has features in common with somatoparaphrenia. Some apotemnophiles seek surgeons to perform an amputation or purposefully injure a limb in order to force emergency medical amputation. A separate definition of apotemnophilia is erotic interest in being or looking like an amputee. This separate definition should not be confused with acrotomophilia, which is the erotic interest in people who "are" amputees.

Apotemnophilia (xenomelia) was first described in a 1977 article by psychologists Gregg Furth and John Money: "Apotemnophilia: two cases of self-demand amputation as paraphilia." Until recently, the primary explanation for Apotemnophilia was psychological/psychiatric, however recent research suggests that here may be a neurological etiology for this disorder.