ESPE Abstracts

Introduction: Disorders of sex development (DSD) are a group of congenital disorders in which the development of chromosomal, gonadal, and anatomical sex is atypical and disharmonious. These DSD may constitute a medical emergency (a salt-wasting syndrome in congenital adrenal hyperplasia) or a social emergency due to the parents’ anxiety generated by the difficulty of assigning the child's sex at birth. Providing urgent and adapted care defining the sexual orientat...

Background: Hyperthyroidism is uncommon in children. Graves’ disease is the most common cause in pediatric population. The diagnosis is based on the presence of anti-TSH receptor antibodies. Pediatric Graves’ disease has some peculiarities mainly in term of treatment and evolution, since its prognostic is different than adults.Aim: The aim of this study is to describe the epidemiological, clinical and biological features of pediatric Graves...

Introduction: Growth hormone (GH) therapy has revolutionized the management of patients with short stature. Its common use was first limited to GH deficient children, but now it has been widnened to various other clinical conditions.The aim of our study is to compare the response to GH therapy in patients with GH deficiency (GHD), with those with Turner syndrome and patients small-for-gestational age (SGA).Materials and Methods: We condu...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Introduction: Pituitary adenomas in children are rare and account for 3% of intracranial tumors in the pediatric population (1), dominated by prolactinomas and corticotropic adenomas, but plurisecreting adenomas are exceptional. We report a case of a 14-year-old girl with a pituitary macroadenoma with a prolactin-predominant plurisecretory immunohistochemical profile revealed by an intracranial hypertension syndrome with a good therapeutic response to cabergol...

Background: Cervico-facial hydatid cyst is rare. It has a high incidence rate in regions with a mild climate such as Mediterranean countries, Middle East, South America, New Zealand, Australia and Southeast Asia. Hydatid cyst develops most often in the liver and lungs in human beings. The incidence of hydatid cysts in the thyroid gland is rare and it accounts for 1% of echinococcosis locations. Primary hydatid cyst of thyroid gland is an exceptional localizati...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Type 1 diabetes mellitus (T1DM) may be associated with reduced bone mineral density (BMD). Possible pathogenic mechanisms include impaired bone anabolic effect due to decreased insulin and insulin-like growth factor 1 (IGF-I). In addition, hyperglycemia can impair osteoblast function.We measured anthropometric data, glycemic control (HbA1C), insulin dose /kg, calcium, PO4 and alkaline phosphatase and BMD by (DEXA scan at the spine (L2–L4) and at the...

Background: Biologic therapy may improve bone health, body composition, and muscle function in children with inflammatory bowel disease but the extent of improvement are unclear.Objective and hypotheses: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Method: Prospective longitudinal study of 19 children (12M), 17 Crohn’s disease (CD), one ulcerative colitis...

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...