ESPE Abstracts

Bacterial infection of the thyroid gland (acute suppurative thyroiditis, AST) is a very rare condition, particularly in children, as the thyroid gland is extremely resistant to infection. AST presents with painful tender mass in the anterior neck and is usually associated with fever, sore throat, dysphagia and limitation of the neck movements. In the most cases the left globe is affected. Common laboratory findings are leukocytosis, elevated erythrocyte sedimentation rate (ESR...

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...

Background: Obesity in adolescence is associated with a 70% likelihood of obesity or overweight in adulthood. Hence, effective intervention programs for childhood obesity in high-risk populations are needed.Objectives: i) To compare the efficacy of two intervention strategies, involving parents only vs parent and child, to a control group, in the treatment of childhood obesity. ii) To identify clinical demographical and biochemical predictors for decreas...

Background and Aims: Despite intensive insulin treatment of type 1 diabetes (T1DM), metabolic control remains suboptimal, especially in children. In an attempt to optimize postprandial glycaemia, some families decrease the amount of carbohydrates contained in a meal. While "low-carbohydrate diets" may improve metabolic control in some selected populations, controversies remain around the risk of hypoglycemia and ketoacidosis and the impact of such diet...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

Introduction: Maternal perinatal mental disorders (PMDs) are associated with developmental and behavioral problems in the offspring, probably mediated by the programming of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis. Increased or decreased cortisol concentrations during pregnancy and the perinatal period have been associated with alterations in the stress responses of the offspring and with child behavioral problems; however, such associations remain unclear.<p ...

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspring’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

Background: Raising a child diagnosed with type 1 diabetes can have a profound impact on parents. Having to combine the demands of the disease and treatment with every day parenting tasks can be overwhelming. Easy accessible communication with healthcare professionals was found to support parents in adequately coping with the disease and the disease self-management in everyday life, as well as peer support and tailored disease information. The Internet is regarded to be a suit...