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...

Background: Sitosterolemia, a rare autosomal recessive defect in lipid metabolism, is caused by mutations in the transporter genes ABCG5 and ABCG8 coding receptors on the luminal surface of enterocytes. Thus, hyperabsorption of non-digestible plant sterol in tissue and blood resulting in cardiovascular (CVD) sequalae. Here we report a case of Sitosterolaemia incidentally diagnosed on whole exome sequencing (WES) for bony lesions in a young Saudi girl with asym...

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

Introduction: Type 1 diabetes is frequently accompanied by other autoimmune diseases that can sometimes be integrated into autoimmune polyendocrinopathies. Through this work, we sought to describe the association of autoimmune diseases with type 1 diabetes in children.Patients and Methods: This is a retrospective and descriptive study, including 354 type 1 diabetic patients hospitalized in the Department of Endocrinology...

Introduction: Type 1 diabetes is frequently accompanied by other autoimmune diseases that can sometimes be integrated into autoimmune polyendocrinopathies. Through this work, we sought to describe the association of autoimmune diseases with type 1 diabetes in children.Patients and Methods: This is a retrospective and descriptive study, including 354 type 1 diabetic patients hospitalized in the Department of Endocrinology...

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...

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: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...