ESPE Abstracts

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, the evolution of this steatosis towards fibrosis and correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated in-office screening tool would be very useful.Main Objective: To evaluate whether the measurement of intraperitoneal fat measured through nutritional ultrasound allows for the diagnos...

Introduction: Noonan syndrome (NS) is one of a group of diseases known as rasopathies, which share a common molecular substrate: alterations in the RAS-MAPK signaling pathway. NS is characterized by clinical and genetic heterogeneity. Up to 50% of cases are caused by variants in the PTPN11 gene, although more than 10 genes have been identified as involved in the pathogenesis of this disease with marked clinical overlap.Objectives...

The purpose: To identify the clinical features of MODY-GCK diabetes which we need to follow of this group of patients.Materials and methods: We examined 35 patients under the age of 18 years with impaired carbohydrate metabolism. Inclusion criteria were: diagnosed carbohydrate metabolism disorder or diabetes mellitus (DM), normal weight, family history of diabetes, no antibodies, normal or slightly decreased C-peptide level for at least 2 years, absence ...

We described a family in which MODY-GCK was detected in 6 people and its course varied.Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.Results: Proband – a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any disea...

Background: DMRT transcription factors are highly conserved regulators of metazoan sexual development. The role of DMRT1 in human primary sex-determination is unclear. Chromosome 9p deletions that remove one copy of DMRT1 are associated with 46,XY feminization and gonadal dysgenesis. While they suggest that DMRT1 is haploinsufficient for testicular development, these deletions usually remove other genes, including DMRT2 and DMRT3. Also, most 9p deletions cause incomplete gonad...