ESPE Abstracts

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

Background: Rare genetic diseases of obesity can be caused by genetic variants leading to disrupted activity of the melanocortin-4 receptor pathway (MC4R). Setmelanotide, an MC4R agonist, is being investigated in a basket study of populations with rare variants in different genes in the MC4R pathway who have early-onset, severe obesity and hyperphagia.Methods: This ongoing, Phase 2, open-label study (NCT03013543) enrolle...

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...

Background: Platelet levels plays a key role for determining insulin resistance by a simple test. The degree of platelet activation may be assessed by platelet indices such as platelet count, mean platelet volume (MPV), and platelet distribution width (PDW).Objective and hypothesis: The aim of this study is to assess platelet count, MPV, and PDW as metabolic indicator in obese chlidren with or without insulin resistants.Methods: Tw...

Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases ...

Background: Bioavailability of peptide/protein – drugs is extremely low after oral administration due to their instability in the gastrointestinal tract or poor absorption.Objective and hypotheses: Oral delivery of growth hormone and somatostatin by adding extreme stable lipids.Method: A liposomal system based on a combination of standard lipids and membrane spanning tetraether lipids, which are extremely stable biomolecules. ...

A female patient with atypical diabetes features, showing heterozygous mutations on G6PC2 (Glucose 6 phosphatase, catalytic subunit 2). Does explain all clinical manifestations or is it only polymorphism?Introduction: Determing diabetes subtypes and classification is not clear for every patient and diagnosis can be difficult. Here in, we have found a quite interesting mutation on G6PC2 gene in a girl, 10 years old, showing atypical diabetes characteristi...

Objective: Clinical Observation of fifty-two patients with 5-alpha-reductase deficiency (5 - alpha-reductasedeficiency, 5α-RD) with oral testosterone undecanoate. To evaluate the efficacy and drug safety, find the optimum age of medication.Methods: Prospective self-controlled comparison methods were used to analyze the clinical data and follow-up results in sixty-nine patients who are diagnosed with 5-alpha-reductas...

Background: Osteoporosis is very rare in childhood and main reasons are growth retardation, immobilisation, calcium and vitamin D deficiency, long term steroid therapy. There is no concensus about the treatment of children and adolescents with osteoporosis. Biphosphonates have been important in the treatment of osteoporosis.Objective and hypotheses: To evaluate the efficacy and safety of oral alendronate on bone mineral density (BMD) in children and adol...

Background: Thyroid nodules are rare in children compared to adults. Although most thyroid nodules are benign, the risk of malignancy is greater in pediatric patients.Case: We described a 10-year-old boy who presented with a right sided thyroid nodule that was 12×8 mm. He had not cervical lymphadenopathy. His fine needle aspiration biopsy cytology was benign. It was subsequently diagnosed as a Hurthle cell adenoma after thyroidectomy. In histopathol...