ESPE Abstracts

Background: Graves’s disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with anti-thyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy, and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce.Methods: A ...

Objective: Comparison of studies on remission rates in pediatric Graves’ disease is complicated by lack of uniformity in treatment protocols, remission definition, and follow-up duration. We performed a systematic review on remission rates in pediatric Graves’ disease and attempted to create uniformity by recalculating remission rates based on an intention-to-treat analysis. Results: Of 1,890 articles, 29 articles consist...

Background: Onset of diabetes in the neonatal period with additional malformations e.g. congenital heart defects should always be suspicious for an underlying genetic disorder. For example, GATA6-mutations were identified in children with congenital heart defects and neonatal diabetes. The latter may be due to pancreas agenesis. Herein we present a novel GATA6-mutation in a boy with transient neonatal diabetes, diaphragmatic hernia, congenital heart defect and early onset scol...

Family-based behavioral treatment (FBT) is the recommended intervention for children with obesity (OB). However, there is a large variability in short- and long-term treatment response and mechanisms for unsuccessful treatment outcomes are not understood. We studied brain regions involved in satiety processing in 9-11-year-old children with obesity (OB, n=54) and children with healthy weight (HW, n=22). Subjects underwent a functional magnetic resonan...

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative in clinical development for once-weekly administration in patients with GH deficiency (GHD). Clinical data in healthy subjects, and adults and children with GHD showed that once-weekly somapacitan injections were well tolerated with no clinically significant safety or local tolerability issues. A sustained dose-dependent IGF-I response supports a once-weekly treatment regimen.<p class="a...

Background: Insipidus diabetes is a rare disease in pediatric endocrinology.Objective and hypotheses: Facing a thickened pituitary stalk on MRI pituitary, the main diagnosis to mention are: dysgerminoma, histiocytosis, sarcoidosis, and autoimmune hypophysitis. Histiocytosis is a rare and often underdiagnosed cause.Method: We report the case of a teenage girl who presented polyuria–polydipsia syndrome at the age of 14 years con...

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...