ESPE Abstracts

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...

Introduction: Recent publications report an earlier age of onset of pubertal changes in the US and Europe. Referrals to pediatric-endocrinologist for early puberty are increasing. Precocious puberty diagnosis is often delayed, especially in boys. Improvement in pubertal assessment (age at onset of puberty) by pediatricians and general practitioners is needed to participate in the PROSPEL study and to improve management of pubertal abnormalities.<p class="a...

Aims: Recently, our team introduced the concept of post-hypoglycemic hyperglycemia (PHH) in the context that recovery of hypoglycemia impacts cardiovascular risk. GLUREDIA study aimed to evaluate whether PHH parameters correlated with glycemic homeostasis during the first year after type 1 diabetes onset and helped to distinguish pediatric patients undergoing partial remission or not.Methods: In the GLUREDIA study, longi...

Aim: The aim of the study was to predict the risk of tumor recurrence in OBTMaterial and Methods: We conducted a retrospective, observational study (2001-2018) on the management of OBT in girls aged 0 to 18 at Toulouse University Hospital, France.Results: 68 patients were included. 16% were prepubertal. Mean age was 11.35 ± 3.08 years. Pain was the main symptom in 49% ...

Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. Patients carrying microduplication have microcephaly, short stature, and mild to moderate intellectual delay or learning disability.Patients and methods: A six-year-old boy wa...

Introduction: Growth failure is a common consequence in small for gestational age (SGA) children.Patients and methods: The growth patterns and serum insulin like growth factor 1 (IGF1) concentrations before and after the 1st year under GH treatment of 32 short stature SGA born children have been evaluated. In addition, we investigated the insulin like growth factor 1 receptor (IGF1R) exon 2 as a hotspot for IGF1R genetic alterations. It is of note that n...

Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutationIntroduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic ...

Background: Hyponatremia is one of the most common electrolyte disorders in hospitalized children and early diagnosis and management are crucial to prevent morbidity and mortality. Because of the physiological resistance to aldosterone under 3 months of age, the mechanisms leading to hyponatremia are often misunderstood.Objective and hypotheses: To assess the prevalence of hyponatremia in hospitalized infants younger than 100 days and evaluate the mechan...

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

Background: Because the success rate of lifestyle interventions is modest in severely obese adolescents, surgical treatments are now proposed. Laparoscopic adjustable gastric banding (LAGB) represents an attractive treatment with minimal morbidity and reversible procedure.Method: All adolescents were included in prospective longitudinal assessment and entirely managed by a pediatric team. Surgery was proposed only after at least 1-year lifestyle interven...