ESPE Abstracts

Background: Pancreatic agenesis has been reported as a cause of neonatal diabetes. Most commonly it was associated with severe neurodevelopmental problems caused by homozygous mutations in the transcription factor PTF1A. Isolated pancreatic agenesis was related to biallelic mutations in an enhancer located near PTF1A gene, which suggests that the enhancer is tissue specific to the pancreas. PDX1 is another transcription factor gene in which biallelic mutation ...

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

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...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

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...

Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.Methods: This multicenter registry aims to enroll 200 patie...