ESPE Abstracts

Background: Though the genes and signalling pathways involved in sexual development have only been partially elucidated, it is known that their disruption can result in disorders of sexual development (DSD). XX ovarian dysgenesis (XX-OD) is a rare, genetically heterogeneous disorder characterized by underdeveloped and dysfunctional ovaries. We previously identified a novel missense mutation in Nucleoporin107 (Nup107, c.1339G>A, p.D447N), an essential compo...

Background: The annual incidence rate (IR) of childhood-onset type 1 diabetes mellitus (T1D) among Estonian children under the age of 15 between 1983 and 2006 was 12.6 per 100 000 per year, with the highest incidence rate in the age-group 10-14.9 years. During this time period the most rapid increase in incidence was seen in age-group 0-4.9 years, with a 9.3% increase annually.Objective: To calculate the incidence of T1D...