Endocrine Abstracts

Introduction: Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterised by refractoriness of target tissue to thyroid hormone. Over 80% of cases are due to mutations in the thyroid hormone receptor beta (THR β) gene with over 100 mutations identified to date. The clinical manifestations vary from common feature as goitre to less common sinus tachycardia, learning disabilities, growth and developmental delay. Aim: We rep...

Background: Individuals with Down Syndrome are at increased risk of developing thyroid disease. Given thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroidism.<p class="abstex...

Background: Hashimoto’s thyroiditis and Grave’s disease are the common autoimmune diseases of thyroid gland across all age groups. Some patients with autoimmune hyperthyroidism can become hypothyroid however it is rare for patients with hypothyroidism to develop Grave’s disease. Although some cases have been reported in adults, this phenomenon is very rare in the paediatric age group. Case: 13 year old Caucasian girl who was diagnosed with...

Introduction: The long term remission rate of Grave’s disease in children after anti-thyroid drug (ATD) therapy is around 30% as opposed to 40-60% in adults. There still exists a controversy regarding the duration of medical treatment and the markers of long term medical remission that support cessation of therapy. Normalization of TSH Receptor Antibody (TRAb) level is considered to be a favourable marker for remission prior to stopping therapy. We report two patients who...

Introduction: Congenital hypothyroidism (CHT) is a significant health issue, responsible for serious long-term consequences if left untreated. From experience we know that early identification and treatment can prevent long-term neurodevelopmental sequelae of the condition. We audited our management of babies born with CHT between the years of 2012 and 2019 to evaluate our care against best practice.Methods: Babies born with CHT in Nottingham between 201...