ESPE Abstracts

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, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...

Introduction: Puberty has a significant contribution to near final height and significant weight gaining in adolescents. Therefore, it is crucial to understand the normal growth variations in the onset and tempo of puberty in a specific population. In this study, we aim ed to provide normative data on weight and height in saudi adolescents.Methods: A nationwide population-based “Jeeluna = our adolescents’ pop...

Background: Paragnagliomas and pheochromocytomas are rare neuroendocrine tumors that originate from the paraganglionic cells of the autonomic nervous systems. These tumors may be extra or intra-adrenal in site. The use of antihypertensive medications is usually challenging in these patients. Long acting alpha and beta blockade can be quite useful preoperatively but challenging postoperatively. We present a case of familial paraganglioma that was successfully t...

Introduction: The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. We report on the first data and the challenges we faced during SPYDR initiation.Methods: Patients were identified from the electronic medical records of the Saudi NGHA hospitals...

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...