Genetic cause of difference in sexual development uncovered

Researchers at the Francis Crick Institute, the Institut Pasteur and their clinical collaborators have identified a cause of testicular tissue developing in people with female chromosomes.

“Differences in sexual development” (DSD) are genetic conditions in which there is a mismatch between the chromosomal sex, XY or XX, which are typically of males and females, and some aspect of their anatomy, for example, an XY individual born as female or XX individual born as male. In many of the cases the genetic cause is unknown. The prevalence is 1 in 2,500-4,000 individuals.

In this paper, published in Proceedings of the National Academy of Sciences USA, researchers looked into a complex condition where people with two X chromosomes, which is typical of females, have testicular tissue instead of ovaries, or gonads with a mixture of both.

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