ESPE Abstracts

Background: Autoimmune destruction of the adrenal cortex is the cause of primary adrenal insufficiency in 45% to 55% of cases in children.Case presentation: A 10-year and 10-month-old female was admitted to the Pediatric Endocrinology Clinic for evaluation of suspected adrenal insufficiency. The girl reported longstanding complaints of fatigue, loss of appetite, recurrent gastric symptoms and salt craving. Medical history was significant...

Introduction: Juvenile Paget's Disease(JPD) is an extremely rare disease of bone characterized by progressive painful bone deformities, fractures and increased bone turnover. Findings also include deafness, loss of vision, vascular calcification and aneurysm. Here, we report two siblings presented with recurrent fractures and diagnosed as JPD by very high alkaline phosphatase levels and radiographic findings. A novel homozygous mutation in the TNFRSF11B g...

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...

Introduction: Increased frequency of Grave’s disease (GD) has been reported both in adults and youth during the COVID-19 pandemic. Aim: To compare the frequency of GD prior and during the COVID-19 pandemic.Methods: Retrospective analysis of children diagnosed with GD over the last 13 years in our Department.Results: A total of 22 children (31.8% boys) with a mean age of 10.55...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Background: Sjogren’s syndrome is a systemic autoimmune disease, and it is rare in pediatric population. Primary symptoms are dry mouth and dry eyes. However, it may present with systemic manifestations, involving lungs, liver, kidneys, vasculature, and blood. We report a case of Sjogren's syndrome with systemic involvement in a child with Graves' disease.Case report: A 9-year-old 11-month-old girl presen...

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

Background: Immunoglobulin superfamily, member 1 (IGSF1) was originally proposed to function as an inhibin co-receptor in pituitary gonadotroph cells. More recently, however, loss of function mutations in the human IGSF1 gene were linked to a novel syndrome of central hypothyroidism, testicular enlargement, and variable prolactin-deficiency. Igsf1-deficient mice are also centrally hypothyroid, with reduced pituitary thyrotropin-releasing hormone receptor (<em...

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.Case report:</str...