ESPE Abstracts

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

Background: Transient hypoparathyroidism is a recognised cause of hypocalcaemia during the neonatal period and difficult to differentiate from permanent forms.Objective and hypotheses: We present the challenges of monitoring and managing neonates with hypocalcaemia and inappropriately low PTH.Method: Cases 1 and 2 had congenital heart disease (CHD) but were FISH negative for 22q11 deletion. Both were treated with supplemental doses...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

Introduction: Gsα is imprinted in human thyroid glands and this appears to be important in the development of moderate TSH resistance in pseudohypoparathyroidism (PHP) 1A and less severe TSH resistance in some, but not all, other forms of PHP. Obesity is a clinical condition in which subclinical alterations of thyroid function have been reported, although the relationship between thyroid status and obesity remains unclear. It is uncertain if this biochemical abnormality m...

Aim: This study investigated rhythmical massage therapy (RMT) and heart rate variability-biofeedback (HRV) to treat dysmenorrhea.Methods: As a part of a randomized controlled trial, 60 patients were allocated to one of the two intervention groups or the crossover control group. For the qualitative study, before and after the 3-month intervention, the women drew their pain into a body silhouette. With the aid of these drawings, half-structured interviews ...

Introduction: Adolescents are considered the main consumer group of Energy Drinks (EDs). EDs are associated with adverse cardiovascular events, such as severe cardiac arrhythmia or arterial hypertension. Recent studies of our department revealed a significantly increased brachial blood pressure and arterial stiffness after the acute ED consumption in healthy adolescents. Increased central blood pressure is linked with the onset of end-organ damages such as lef...