ESPE Abstracts

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

Background/Objective: Smoking during pregnancy is known to influence prenatal/postnatal growth of the offspring. We investigated the impact of smoking in the Swedish reference population for new reference for height, weight and BMI, the GrowUp1990Gothenburg cohort.Material/Methods: The study was based on 1907 healthy children (918girls/989boys) born at term in Sweden with Nordic parents and longitudinal growth measurements. 155girls/180b...

From time to time pediatric endocrinologists may be confronted with paradoxical constellations. Here, we report on a 13-year-old boy with type-1 diabetes. He had polyuria and polydipsia for the previous 2 weeks. Three days before presentation, he got increasingly exhausted and developed recurrent vomiting. At presentation his weight was 41,4 kg (P 25-50) and his height was 154 cm (P 25-50). Initial labs were HbA1c 10.2%, glucose 530 mg/dl, pH 7.15, base excess - 21.1 mmol/l, b...

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.Methodology: We report on a meanwhile 4 4/12- year- old girl who presente...

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

Objectives: The aim of this study is to describe the clinical characteristics of Austrian children and adolescents with gender dysphoria seeking gender affirming medical care, as well as their treatment trajectories.Methods:In this retrospective study at a large university hospital, a chart review of all patients presenting with gender dysphoria at the pediatric outpatient clinic for differences in sex development betwee...

Introduction: The growth process in children depends on GH/IGF-1. Ghrelin is stimulator of GH synthesis. Ghrelin also stimulates the orexigenic center peptides responsible for appetite. It is synthesized in the stomach, thus its secretion may be alter by gastrointestinal tract deseases. Recently, high titers of antibodies against some neuropeptides (including anti-ghrelin) have been found in indyviduals with certain microflora components, e.g. Helicobacter pyl...

Background: Sclerostin is secreted by the osteocyte and inhibits bone formation by osteoblasts and is thus a negative regulator of bone formation. In adults, sclerostin levels increase after weight loss, which may be prevented by exercise training. The effect of weight loss on sclerostin in children is unknown.Objective and hypotheses: To compare sclerostin levels in children before and after a 10 weeks stay at a weight loss camp (WLC).<p class="abst...

Background: McCune Albright syndrome (MAS) is defined by the classic triad of precocious puberty, fibrous dysplasia of bone and café au lait skin pigmentation. However, the clinical spectrum is often more variable due to mosaic distribution of the postzygotic GNAS-mutation. Hypercortisolism occurs in a minority (5%) of patients. It is most frequently caused by nodular adrenal hyperplasia and can be life-threatening. Decisions on whether clinical management should be conse...

Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during child...