ESPE Abstracts

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

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 ...

Abstract unavailable...

As in previous years, most of the studies concern the medium and long-term complications of cancer therapy. Issues related to long-term surveillance strategies represent an emerging topic of discussion. In comparison with previous years, this year we have found few truly original and innovative studies. Rather, the attention of the researchers seems to be focused on confirming and consolidating acquired data, in particular: - The development of subsequent neoplasms in childhoo...

Abstract unavailable...