ESPE Abstracts

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

Introduction: Osteogenesis imperfecta (OI) is a disease related to collagen synthesis or fuctions. Collagen is found in many areas of the cardiovascular system. Endotelial dysfunction can be detected at an early stage before the symptoms become evident by non-invasive radiologic methods such as flow-mediated dilatation (FMD), carotid intima-media thickness (CIMT), and ventricular functions measurements, which may serve as indicators of endothelial dysfunction....

Donohue Syndrome is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor gene. It presents severe insulin resistance, fasting hypoglycemia, post-prandial hyperglycemia, intrauterine and postnatal growth retardation, dysmorphic features, hypertrichosis. The diagnosis of Donohue syndrome was based on the clinical characteristics, laboratory evaluation and determination of the INSR mutation. We report a Turkish female patient with genetically ...

Puberty is a physical, hormonal and psychosocial transition from childhood to adolescence. Precocious puberty (PP) is the beginning of secondary sexual characteristics before eight years of age in girls. The most common type is known as “central precocious puberty (CPP)”. CPP occurs due to early activation of the hypothalamus-pituitary-gonad (HPG) axis. Although the real trigger for idiopathic CPP is unknown, it has been proposed that it may be caused by the interact...

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

Background: Hyperinsulinaemic hypoglycaemia (HH) is characterized by the dysregulated secretion of insulin from the pancreatic β-cell. It is a major cause of severe and persistent hypoglycaemia in the newborn period. The rapid diagnosis and avoidance of recurrent episodes of hypoglycaemia are vital in preventing brain damage.Objective and hypotheses: To assess if the serum insulin measured at the time of hypoglycaemia in neonates with HH could be co...

Introduction: Diabetic ketoacidosis (DKA) is a common medical emergency and is the most common cause of death in children with type 1 diabetes mellitus due its complications. Paediatric residents are usually the first line whom managing paediatric emergencies in Iraqi hospitals. They form the backbone of the provided service. It is important to make sure they are practicing at the highest possible standard to ensure patients’ safety. Therefore, it is cruc...

There is a lack of clear evidence-based guidelines for hospital admission of adolescents with anorexia nervosa (AN), resulting in a high degree of variation in practices. Acceptable indications for admission include the following: weight is less than 75% of ideal body weight, temperature < 35.5°C, heart rate < 50 beats/min, systolic BP <80 mm Hg, and orthostatic change in pulse or in BP.The aim of this study: To evaluate the ant...

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...