ESPE Abstracts

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...

Background and Aims: Insulin pump therapy may o"er superior glycemic control compared to multiple daily injections (MDI) in specific populations. Closed-loop insulin delivery systems show promise but have limited data in the Saudi pediatric and young adult populations. This study aimed to evaluate the e#cacy of insulin pump therapy in children with type 1 diabetes previously treated with multiple daily injections.Methods:</s...

Background: Most children with short stature (SS) remain without a clear diagnosis despite extensive workup and are thus classified as idiopathic short stature (ISS). Whole exome sequencing (WES) in particular, has become a revolutionary approach in identifying monogenic causes of growth disorders. Therefore, this study aims to determine the diagnostic yield of WES in identifying the genetic etiology in children with ISS.Methods:...

Background: Traditionally patients with X-linked Hypophosphatemic Rickets (XLH) have been treated with conventional therapy, however, in 2018, the FDA approved Burosumab use in XLH patients.Objective: To investigate Burosumab effectiveness on pediatric patients with XLH by observing an improvement in serum phosphorus concentration and total rickets severity score (RSS) within 12 months period.<stro...

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...