Genetic and Hormonal Control of Sex Development

Disorders of sex development (DSD) is the term used to describe a range of conditions in which foetal sex differentiation as male or female does not follow the typical path. The cause is usually genetic and the diagnosis is often made when the affected baby is born with ambiguous genitalia.

The research group of Professor Ieuan Hughes studies the genetic and hormonal causes of DSD, as well as maintaining the Cambridge DSD database. The database has been kept for over 20 years and contains clinical and biochemical information about patients that we have helped to diagnose and the results of their DNA and protein analysis. It is a valuable source of information for researchers in our team into the diagnosis of disorders of sex development.

Recent initiatives in the UK and Europe (UKGAIN, Euro DSD, ESPE DSD database) have been launched to share information with other Doctors working in the field of DSD. This will improve planning of services across the UK and the EU and help our understanding of these rare conditions.