ESPE Abstracts

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Background: Tissue Doppler echocardiography can predict early stages and progression of diabetic cardiac changes; especially ventricular dysfunction, a complication that adversely affect the quality of life and prognosis of the disease.Objective and hypotheses: The aim of this study was to assess systolic and diastolic functions of both ventricles in type 1 diabetes (T1D) patients by conventional and Tissue Doppler echocardiography, and to correlate card...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Mutations in genes of the RAS/MAPK signalling pathway have been shown to cause several syndromes characterized by dysmorphic features, growth retardation, cognitive impairment, heart disease and cutaneous abnormalities. The GHrh treatment has been used to improve growth in children with Noonan syndrome.Material and methods: 201 cases of patients referred with clinical suspicion of S. Noonan and other RASopathies was studied. Analysis of ...

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...

Introduction: Short stature is a multifactorial condition caused by both genetic and environmental factors. Genetic causes include chromosomal disorders and diseases inherited by monogenic and multifactorial inheritance. The purpose of genetic evaluation in short stature is not only for diagnosis, but also to provide additional information to the patients and their families about prognosis of the disease, treatment approaches and genetic counseling.<p clas...