ESPE Abstracts

Background: TSH-secreting pituitary adenomas are rare, accounting for less than 2% of all pituitary adenomas. Their diagnosis may be difficult when a coexistence of other diseases masks the typical clinical and biochemical manifestations of TSH-hypersecretion.Objective: To report a case of a TSH-adenoma without signs/symptoms of hyperthyroidism due to underlying autoimmune thyroid disease.Results: Patient is a 17 year old male who ...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

Background: We present a 17-year-old female who presented with a 1 year history of hirsutism, male pattern baldness, marked cystic acne and mild cliteromegaly. She had her menarche at the age of 15 years and continued thereon to have a regular menstrual cycle. She was pubertal on examination (B3, P5, A5) with no neurological deficit.Objective and hypotheses: This female presented with marked clinical hyperandrogenism. We initially suspected polycystic ov...

Background: Paragangliomas are rare tumours that originate from neural crest cells. Diagnosing and managing patients with paragangliomas pose several challenges.Objective: We investigated whether MECP2 defects are associated with an idiopathic CPP phenotype with or without mild neurodevelopmental abnormalities.Clinical presentation: A 14-year-old female presented with cons...

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

Background: The effect of maternal obesity and the associated maternal inflammation on neonatal and paediatric health and wellbeing over the early childhood years is not fully understood.Objective and hypotheses: This study aimed to determine the impact of maternal and fetal inflammatory factors on infant anthropometric measurements.Method: 265 mother–infant pairs from an RCT assessing the effect of a low glycaemic index diet ...

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

Background: Cystic fibrosis related diabetes (CFRD) affects 40-50% of adults with Cystic Fibrosis (CF) and significantly decreases pulmonary function and affects life expectancy. Previous data highlighted that CFRD may be preventable or curable with the use of CFTR modulators, namely Ivakaftor. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. To our knowledge, its effect on glucose regulation in children and young peopl...

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...