ESPE Abstracts

Background: The introduction of second generation antipsychotic (SGA) drugs for the treatment of bipolar disorders has been associated with metabolic adverse reactions. Many studies cite significant weight gain as a common side effect, which is often attributed to dysfunction of glucose homeostasis and the development of dyslipidaemia. This in turn may trigger the early pathogenesis observed for example in type-2-diabetes. Factors controlling energy metabolism are largely cons...

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

Introduction: Only 1.8% of thyroid malignancies occur during childhood, explaining very limited pediatric data. Most frequent in children are papillary thyroid carcinoma (PTC), occurring after exposure to radiation, and presenting as a thyroid nodule ± cervical lymph nodes. PTC may present as diffusely infiltrating disease of the thyroid with microcalcifications. We report an uncommon presentation of a PTC in a 7 year old boy.Case report: The boy wa...

Introduction: In Europe, GH is approved for short (height SDS <−2.5) children born small for gestational age (SGA) who fail to show catch-up growth by 4 years of age.Methods: This report analysed the patterns of GH dose used in everyday clinical practice based on short children born SGA enrolled in NordiNet® IOS, an observational study evaluating the long-term effectiveness and safety of Norditropin®. Average GH ...

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...

Female phenotype and sex reversal are often reported in 46,XY patients with 5α-Reductase Type 2 Deficiency (5αRD2). In case of late diagnosis, at puberty, virilization occurs. Over the years, sex assignment in case of early diagnosis evolved from female to male. We report four cases of 5αRD2, managed differently over three decades. All children presented with a female phenotype (EGS 3-4), palpable gonads, absent uterus, and 46,XY karyotype. All patients were ...

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...