ESPE Abstracts

Sitosterolemia is an autosomal recessive disorder affecting lipid metabolism which is characterized by decreased biliary excretion and increased absorption of plant sterols and cholesterol, leading to significantlyelevated serum levels of plant sterols. Approximately 80 homozygous or compound heterozygous variants in adenosine triphosphate-binding cassette subfamily G genes (ABCG5/ABCG8) genes have been described in patients with genetically confirmed sitosterolemia. Clinicall...

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

Background: There are multiple factors affecting fetal growth, including maternal, fetal, placental and other environmental factors. Insulin like growth factor-1 ( IGF-1) has a major role in promoting fetal and post-natal growth. It is also proven that IGF1 promote brain, inner ear and retinal development.Case: We report a 9-years old boy born at 31 weeks of gestation to a consanguineous parents by cesarean section for s...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy, characterized by unregulated insulin secretion. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease like Maple syrup urine disease (MSUD) adds more challenges to the already complex management.Case: We report a term male neonate with uneventful birth ...

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...