ESPE Abstracts

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

Background: Monogenic obesity (MO) is a rare form of obesity caused by mutations in a single gene, and characterized by being severe and with early onset. The leptin-melanocortin pathway is the main pathway controlling satiety and food intake. Genetic variants in this pathway have been implicated in MO with many being identified in consanguineous populations. Another group of neuronal proteins important in the development of neuronal circuits linked to energy ...

Background: Brain tumours constitute the second most common tumours in childhood after leukaemia. Infra-tentorial tumours are more common. Most of the supra-tentorial tumours (STT) are in the supra or para-sellar regions. Malignant tumours are rare. The survival is 50–90% with appropriate management. However, STT and/or treatment may lead to traumatic brain injury (TBI) with endocrinopathic sequel.Methods: This is a retrospective hospital based stud...

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: 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: Wolcott-Rallison syndrome (WRS) is a rare recessively inherited disorder characterized by insulin-dependent diabetes and multiple epiphyseal dysplasia. The disease is also characterized by recurrent episodes of hepatitis or hepatic failure, growth retardation and developmental regression. WRS is caused by biallelic mutations in EIF2AK3, encoding the eukaryotic translation initiation factor-2 kinase 3 (IEF2AK3). EIF2AK3 regulates the synthesis of u...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

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...

Background: Monogenic early onset obesity is mainly due to pathogenic mutations in a single gene involved in the leptin melanocortin signaling pathway. This pathway is essential for satiety and energy homeostasis. Adenylate cyclase 3 (ADCY3) is a transmembrane protein localized in the primary cilia of neurons and plays a vital role in converting ATP to cAMP, a secondary messenger that regulates various downstream signaling pathways that control carbohydrates a...