ESPE Abstracts

Background: In order to prevent virilization in CAH female fetuses, physicians have during the last thirty years used the synthetic glucocorticoid dexamethasone (DEX) as a therapeutic approach administered during early pregnancy. Due to the fact that treatment has to be started before the genotype of the fetus is known, seven out of eight treated fetuses will be subjected to high doses of DEX during early embryogenesis without benefit. Therefore, negative side effects cannot b...

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. However, this long-term GC-treatment could change the developmental trajectory of the brain and predispose patients to problems with cognition and mood regulation. Previously, we have found impairments in working memory in patients with CAH, as well as alterations in brain structure in regions of the central executive network (CEN). These changes could be associated wit...

Objective: Oral hydrocortisone medication for Congenital Adrenal Hyperplasia (CAH) could lead to suboptimal blood cortisol levels throughout the day. In addition, the HPA-axis is rendered inflexible in patients. Cortisol is crucially involved in the stress response as well as in generating and regulating emotional responses to stimuli. Sub-optimal cortisol levels, in combination with a less flexible HPA-axis, could therefore lead to problems with emotion regul...

Objective: To evaluate growth in patients with classical CAH.Patients and methods: Retrospective, longitudinal and multicentric study of patients with classical CAH due to 21-hydroxylase deficiency who had achieved adult height(AH).Excluded: boys with simple virilising forms(SV)>1-year at diagnosis. Normative Control Group:Millennials Longitudinal Growth Study(2018). According t...

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorder of the young women, and it could influence both physical and psychological wellbeing. As a consequence of obesity and hirsutism lower sexual attractiveness, higher emotional distress as well as higher depression score is frequently observed.Study Objective was to evaluate anxiety and depression score as well as the body esteem and stress perception ...

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: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Background: RePPOP Aquitaine (network of prevention and treatment of pediatric obesity in southwest France) has developed a multidisciplinary approach to treat childhood obesity based on multicomponent lifestyle interventions and family-based actions.Objective and hypotheses: This study assessed the impact of the care management proposed by RePPOP Aquitaine and investigated factors associated with better outcomes.Method: The impact...

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...