Endocrine Abstracts

Mutations in the genes of PROK2/R2 cause isolated hypogonadotropic hypogonadism (IHH) in humans, and defects in the PROK2/R2 pathway metabolic disturbances in mice. The role of naturally occuring mutations in the reproductive and metabolic health of the general population remains unknown. We hypothesized that individuals with naturally occurring rare PROK/R2 variants will display dysregulation of their reproductive and metabolic fitness. We ...