ESPE Abstracts

Background: Antithyroid drugs such as carbimazole form the mainstay of medical management of hyperthyroidism in children. Parents are always warned about agranulocytosis, which is a rare side effect of these drugs. Development of arthralgia after starting antithyroid medication can be a disabling side effect and needs to be distinguished from the more serious antineutrophil cytoplasmic antibody (ANCA) positive vasculitis.Objective and hypotheses: Here we...

Background: Hypothyroidism is a well-known treatable cause of global developmental delay in developing children. In recent years contrast imaging studies are much more commonly employed as diagnostic means in the treatment of various pediatric conditions. In 2022, the FDA issued a warning recommending thyroid function monitoring in babies and young children who receive injections of iodine-containing contrast media(ICM) for medical imaging. They recommend the ...

Background, objective and hypotheses: By using QEPS, a new mathematic growth model, different components of growth can be analyzed, comparing secular trends of prepubertal and pubertal growth in Swedish birth cohorts born 1974 and 1990.Materials and methods: Two birth cohorts followed to adult height (AH) born around 1974 (1691 boys; 1666 girls) and 1990 (1647 boys; 1501 girls) being healthy, Nordic and born term. A subpopulation of 1974 (1177 boys; 1168...

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...