Sex determination is the process by which an embryo develops testes or ovaries. The gonads subsequently direct the development of male or female sexual characteristics. Disorders/differences of sex development (DSD) occur when there is a mismatch between the physical appearance of an individual’s reproductive organs and their genetic make-up (that is, between their anatomic sex and chromosomal sex). This can occur when the embryonic gonad fails to develop normally and often has a genetic basis. While these birth defects are very rare they can have a considerable impact on the patient and their family. Moreover, even minor abnormalities of gonad development can have a later impact, resulting in reduced fertility or increased risk of tumours.
A main focus of our research is the condition 46,XY gonadal dysgenesis in which individuals with an XY male chromosome constitution develop as females. For many people born with the condition there is no genetic diagnosis available to them and it may only be discovered that they have the condition at puberty.
We collaborate with clinical geneticists to identify genes responsible for human DSD. Our role is to investigate these genes in mice and study the molecular and cellular mechanisms by which they regulate development of the mouse gonad.