Disorders of human pubertal timing

Puberty is the essential period of physical and psychological change from a child to an adult. Disturbances of pubertal timing are common, and are associated with increased risk of obesity, type 2 diabetes and in severe cases infertility. Moreover, both early and delayed puberty are associated with early menopause. While we know that these conditions often run in families, we still understand very little about how they occur and which gene changes are responsible. Currently, it can be difficult to distinguish which patients with early or late puberty need intensive treatment and follow up. I will use up-to-date genetic, cell and animal experiments to identify gene defects in our patient families with early and late puberty, and to understand how these inherited changes influence the timing and progress of puberty. This knowledge will enable us to improve diagnosis, allow tailored treatment and direct careful long-term follow up for our patients.