ESPE Abstracts

Background: GNAS (Guanine Nucleotide-Binding Protein, Alpha Stimulating) is an imprinted gene that encodes the alpha subunit of the stimulatory G protein (Gsa), which mediates the signaling of various G protein-coupled receptors. Inactivating genetic and epigenetic changes in GNAS, leading to Gsa deficiency, are associated with different subtypes of pseudohypoparathyroidism, which may include severe, early-onset obesity ...

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...

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

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...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

Background: Several somatropin products are available as pen and electronic devices. When administering the last dose from a device, patients may have an insufficient amount of GH remaining for a full dose.Objective and hypotheses: The aim of this analysis was to estimate the potential GH waste per patient with pen devices and the easypod® device, and to quantify the potential economic impact of expected GH waste from patient and health c...

Introduction: Brachydactyly is defined as shortening of metatarsal and metacarpal bones. There are different types of brachydactyly which can be isolated or associated with syndromes. The underlying gene defect has been identified in the majority of isolated brachydactylic and some syndromic forms. We herein report a Saudi male patient who presented with brachydactyly and short stature and found to have a rare form of skeletal dysplasia related to PTHLH gene m...

Background: Congenital leptin deficiency (CLD) is an extremely rare condition due to homozygous pathogenic mutations in the leptin (LEP) gene. The clinical manifestation of patients with CLD is severe early-onset obesity and hyperphagia. Most patients with pathogenic homozygous leptin gene mutations have low or undetectable leptin levels, whereas few cases show high bio-inactive circulating leptin levels. To date, around 20 variants in the LEP gene have been d...

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...