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...