ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...