ESPE Abstracts

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 ...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Genomic imprinting in mammals is controlled by DNA methylation. This essential epigenetic phenomenon mediates the mono-allelic expression of about hundred autosomal protein-coding genes and hundreds of regulatory non-coding RNAs, such that these become expressed from one of the two parental alleles only. Although the first imprinted genes were discovered less than thirty years ago, given their key roles in fetal development, homeostasis and brain functions, these exceptional g...

Introduction: Anemia in children is still quite common, sometimes it is a secondary symptom of another rare disorder. Rendu-Osler-Weber disease, a genetically determined haemorrhagic diathesis, is characterized by the occurrence of vascular malformations leading to bleeding from the nose, skin and mucous membranes and to various internal organs. Diagnosis facilitates the occurrence of the disease in relatives of the first degree, however, due to the progressive nature of vascu...

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...

Introduction: The placenta is an endocrine organ vital to fetal growth. It has multiple functions: pregnancy maintenance, nutrient and oxygen transport to the fetus, and removal of waste products among other functions. MicroRNAs (miRNAs) and proteins are significant mediators of these functions. A description of their global expression in healthy placenta may increase our understanding of the molecular biological pathways that are important for normal fetal gr...

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

Background: There is limited information on the ability of demographic or lifestyle factors to predict short term changes in weight status during childhood.Objective and hypotheses: To study the effect of parental (educational level, BMI status and perception of child’s weight status) and childhood factors (eating habits, sedentary behaviour and physical activity), on 1-year BMI increments by the use of BMI, BMI SDS and BMI SDS conditional gain....