ESPE Abstracts

I have chosen 3 manuscripts for my year book presentation on antenatal and neonatal endocrinology. The first manuscript describes the use of induced pluripotent stem cells (iPSCs) to study the genetic mechanisms of congenital hyperinsulinism (CHI). The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provides a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening for new drug targets in-vitro. The second manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi) in the beta-cells with increased ER stress markers and a tendency to apoptosis. Finally, the third manuscript reviews the evidence for the use of probiotics for preventing gestational diabetes mellitus (GDM). In summary this review did not find any evidence of certainty that supports the use of probiotics for reducing the risk of developing GDM. Only 2 studies conducted in women with GDM and atopic disease suggested a possible reduction in the risk of GDM with probiotics. More importantly and of concern, the review found with a high degree of certainty that the use of probiotics increases the risk of developing pre-eclampsia. This observation suggests that great care needs to be taken in all future studies involving the use of probiotics in pregnancy.