ESPE Abstracts

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

Background: Many epidemiological studies have found high prevalence of vitamin D deficiency in children with type 1-diabetes mellitus (T1D). 1,25(OH)2D is a potent immune-modulator that also enhances the production and secretion of several hormones, including insulin. The association of low serum 1,25(OH)2D levels with high glucose level and diminished insulin sensitivity suggests that vitamin D may modulate insulin metabolism.Aim and objectives: To scre...

Introduction: Microalbuminuria is the earliest sign of diabetic nephropathy. Cubilin encoded by the CUBN gene is one of the receptor proteins accountable for albumin reabsorption in proximal renal tubules. Cubulin gene (CUBN) was identified as a significant locus for albuminuria. A strong association between CUBN variant rs1801239 and albuminuria was detected in general population.Aim of the work: The aim of the current ...