ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) is characterized by proximal tubular resistance to PTH and, in some disease variants, by Albright osteodystrophy. PHP is caused either by mutations in those regions of GNAS encoding Gsα (PHP1A and PseudoPHP) or by GNAS methylation defects (autosomal dominant (AD) and sporadic (spor) PHP1B). Phenotypic differences in fetal growth, post-natal growth and metabolism are observed in the different PHP types.<p cla...

Background: It has been discussed in literature, that being severely obese and adolescent are predictive for failure in a behavior based weight-loss program.Objective: To investigate the association between age and initial BMI-SDS with BMI-SDS courses during and after the attendance of an inpatient weight-loss program.Design: The LOGIC-trial involves overweight and obese children and adolescents (6–19 years), who participate i...

Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...

Introduction: Besides an excessive, early-childhood weight gain, hyperphagia is the key symptom in patients with monogenic obesity. However, the assessment of hyperphagia is still challenging. Here, we applied the hyperphagia questionnaire developed for patients with Prader-Willi-Syndrome (PWS) to assess the severity of hyperphagia in patients with monogenic obesity.Methods: Pediatric patients with biallelic pathogenic l...

Introduction: The Glucagon-like Peptide(GLP1)-analogue liraglutide is the first drug approved for the treatment of obesity in adolescents in Europe. While clinically relevant effects of liraglutide treatment in adolescents with obesity had been shown in a phase III study, there are no reports about the use under real-life conditions in these patients. Our aim was to report the effect of treatment with liraglutide on body weight loss in a cohort of adolescents ...

Background: Leptin is produced by adipocytes and regulates central hunger and satiety sensation. While the central leptin effects are well understood, little is known about the regulation of peripheral leptin production. Clinical data demonstrate that leptin levels are rapidly declining upon fasting, suggesting that leptin secretion is acutely regulated by nutrient availability. Although it has been previously shown that leptin secretion is under control by gl...

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

Introduction: Impaired insulin sensitivity (IS) is a hallmark of increased cardiometabolic risk in adolescents with obesity. Surrogate markers of IS based on fasting insulin have important limitations. The Single-Point Insulin Sensitivity Estimator-Index (SPISE), obtained using the mathematical formula 600 × HDL-C^0.185/Triglycerides^0.2 × BMI^1.338, has been shown to be a predictor for detecting both insulin resistance and the risk of developing g...

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...