ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Introduction: Since diabetes mellitus is one of the major non-communicable diseases, therefore it is important taking this subject in some details during the undergraduate medical course, to prepare the students for recognizing the disease and understanding its management. In Sultan Qaboos University, the medical students go through a pre-internship training period, immediately after their final year of clerkship and just before starting their internship.<...

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...

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: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

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...

Background: Celiac disease (CD) is an important association with type 1 diabetes (T1DM) with a significant impact on growth and glycaemic control. The frequency of coexistence of T1DM and CD is widely described, ranging from 2.5 to 16.4% in 23 studies worldwide, much greater than the general population risk of 1%. The risk of CD is higher among younger children (less than 4 years), females and during the first few years of T1DM diagnosis. Objectives: We aimed ...

Introduction: Primary adrenal insufficiency in paediatrics is uncommon but lethal condition, it results most commonly from congenital adrenal hyperplasia1. Short Synacthen Test (SST) is widely used to assess the glucocorticoid synthesis in the adrenal glands. Synacthen doses are age-based; 62.5mcg for babies younger than 6months, 125mcg for infants between 6-24months and 250mcg for children older than 2years. There is a controversy amongst endocrino...