ESPE Abstracts

Sclerosteosis is a rare autosomal recessive disorder characterized by progressive skeletal overgrowth and increased bone density. Loss of function mutations of SOST gene, coding for sclerostin, are linked to sclerosteosis. Sclerostin plays a critical role inhibiting osteoblastic activity and preventing excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis patients are often tall and have excessive body weight due to high skeletal weight. To...

Background: Type 2 Diabetes (T2DM) is increasing in childhood especially among females and South-Asians.Objective: To report outcomes from a national cohort of children and adolescents with T2DM 1-year post diagnosis.Subjects and Methods: Clinician reported 1-year follow-up of a cohort of children (<17 years) with T2DM reported through British Paediatric Surveillance Unit (April 2015–April 2016). This followed the same met...

Introduction: Nephrotic syndrome (NS) is one of the most frequent glomerular pathological conditions seen in children. The International Study of Kidney Disease in Childhood (ISKDC) reported that 84.5% of children with idiopathic nephrotic syndrome (INS) had minimal-change nephrotic syndrome (MCNS). Complications of INS may arise as a result of the disease itself or secondary to treatment. The chief complications of NS are infection, followed by thromboembolic events. Other di...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by a triad of megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus (DM). It is due to an inherited mutation in SLC19A2 gene, encoding a high-affinity thiamine transporter 1 in charge of facilitating the uptake of thiamine by the cells. Other manifestations including optic atrophy and stroke are rarely reported. We herein report an extremely rare...

Endocrine complications are common among children who have finished their cancer treatment. Approximately half of those children will experience at least one hormonal disorder. The risk of endocrine deficiency is related to the child's gender and age, tumor location and therapies used (surgery, chemotherapy or radiation therapy).Aim of the study: To address the main endocrine abnormalities following cancer therapies that occurs late...

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: The prevalence of obesity in children and adolescents has increased significantly worldwide with an alarming rise of its co-morbidities. The excess of visceral adipose tissue is associated with hypertension, prothrombotic and pro-inflammatory states leading to cardiovascular diseases.Aim of the study: To find possible associations between visceral obesity and plasma fibrinogen, as one of the cardiovascular risk factors, in obese children....

Gonadotropin releasing hormone agonists (GnRHa) stops premature sexual maturation in young children and preserve the potential of achieving acceptable adult height.Aim: To assess the efficacy of long acting GnRHa in suppressing early pubertal development and its impact on height outcome in our patient population.Methods: Records of children treated with GnRHa since 2018 at Hull University Hospital;...

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...