ESPE Abstracts

Background: NKX2-2 gene mutation (reported in 3 cases worldwide) cause severe IUGR and neonatal diabetes. Beta-cells of the mice Nkx2-2 (−/−) model were recently shown to convert into cells producing the appetite-promoting peptide ghrelin. Classically, ghrelin secretion is stimulated during fast and suppressed by nutrients or glucose ingestion in all age groups. In obese children this ghrelin suppression reaches a minimum of 60% of base...

Background: Immunoassays are subjected to a number of interferences giving abnormal results which may lead to unnecessary investigations and treatment. We present clinical cases in which biotin treatment could be involved in abnormal results of thyroid function tests (TFTs) obtained by immunoassays based on biotinylated antibodies/analogs.Objective and hypotheses: Three infants were admitted to intensive care unit (ICU) during 2015, in Edmond and Lilly S...

Background: Improved tools for diagnosis, a higher malignancy risk in thyroid nodules and the referral to surgery in Grave’s disease when medication fails, have lead to increased thyroidectomies in children.Objective and hypotheses: The aim of our study was to evaluate thyroid surgery outcomes and the presence of transient or permanent complications, in a cohort of children who underwent surgery, with the same surgical team, in the last 10 years.</p...

Background: Diagnosis and treatment of Cushing’s disease in children are challenging.Objective and hypotheses: Cabergolin is a long acting dopamine receptor agonist used for the treatment of patients with recurrent Cushing’s disease.Method: year-old female patient admitted to the hospital because of short stature, amenorrhea, facial and body hair growth, rapid weight gain, hair loss and excessive acne.<p class="abstex...

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

Introduction: Thyroid nodules are uncommon in the paediatric population, present in 5% of children but 35% of adults. However, up to 25% of paediatric nodules are malignant, compared to 5% in adults. It can be challenging to differentiate malignant nodularity from benign clinically, particularly in the presence of a thyroid disorder. We present two contrasting cases of adolescent girls with solitary thyroid nodules.Case 1: A 13-year-old girl was referred...

Thyroid nodular disease, either multinodular goitre (MNG) or solitary nodule, carries a higher malignancy risk in paediatric patients compared to adults requiring closer monitoring and investigation. We present a case series of patients with multinodular goitre who were confirmed to have tumour predisposition syndromes. Eight patients (six female) with MNG were identified using electronic medical records, based on presence of MNG and/or previous genetic testing confirming eith...

Background: Thyroid nodules in children are less common than in adult but are about two-to three-fold at risk of being malignant compared to adults. Plummer's adenoma is a very rare occurrence in pediatrics; there is no literature evidence of this diagnosis in Prader-Willi Syndrome (PWS).Case Presentation: A 9-year-old boy, followed at our Pediatric Endocrinology Outpatients Clinic for PWS (maternal uniparental diso...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...