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Gene variant more prevalent in transsexuals

If other transsexual gene variants are discovered, diagnosis could become easier, allowing gender reassignment surgery or hormone therapy earlier in life

A GENE variant has been identified that appears to be associated with female-to-male transsexuality – the feeling some women have that they belong to the opposite sex.

While such complex behaviour is likely the result of multiple genes, environmental and cultural factors, the researchers say the discovery suggests that transsexuality does have a genetic component.

The variation is in the gene for an enzyme called cytochrome P17, which is involved in the metabolism of sex hormones. Its presence leads to higher than average tissue concentrations of male and female sex hormones, which may in turn influence early brain development. Clemens Tempfer and his colleagues at the in Austria discovered the variant after analysing DNA samples from 49 female-to-male (FtM) and 102 male-to-female (MtF) transsexuals, as well as 1669 non-transsexual controls.

The variant was more common in men than women, although it doesn’t seem implicated in MtF transsexuality as the proportion of MtF transsexuals with it was similar to that in non-transsexual men. In women, however, there were some differences: 44 per cent of FtM transsexuals carried it, compared with 31 per cent of non-transsexual women (Fertility and Sterility, ).

While there are many women with the variant who are not transsexual and many FtM transsexuals who lack it, the finding raises the possibility that the variant makes women more likely to feel that their bodies are of the wrong sex, and that this is a result of their brains having been exposed to higher than average levels of sex hormones during development. “It may increase the likelihood that people will become transsexual,” says Tempfer. But he stresses that their cultural environment is also important.

Janett Scott, former president of the , a UK support group for transgender people, is concerned that positing a biological basis for transsexuality may encourage people to try and cure it. Tempfer strongly denies any such motive for his research: “That is completely out of the question,” he says.

Nonetheless, he says, if other gene variants with a stronger association to transsexuality are identified, establishing a diagnosis might become easier. This might allow gender reassignment surgery or hormone therapy to start earlier in life.

“If other genes are identified it could make diagnosis easier, allowing surgery or hormone therapy to start earlier on”

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