ESPE Abstracts

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

Objectives: Thiamine responsive megaloblastic anemia syndrome (TRMA) is characterized by the clinical triad of megaloblastic anemia, non-immune diabetes mellitus and sensorineural deafness. It is a very rare autosomal recessive disease with an increased frequency in consanguineous marriages and isolated communities. The syndrome is due to intracellular thiamine deficiency which is the result of a defective high affinity low performance thiamine transporter pro...

Background: Different formulations of gonadotropin-releasing hormone agonist (GnRHa) are available for the treatment of central precocious puberty (CPP). Currently there are few data on quarterly formulation depot (11.25 mg) during treatment.Aim: The purpose of this study is to analyse the effect of Triptorelin 11.25 mg 3-months depot in comparison with the monthly 3.75 mg formulation at the beginning and during the treatment of CPP.<p class="abstext...

Background: Central precocious puberty (CPP) may affect quality of life (QOL) due to premature body and psychological changes that characterize this pathology. Few data are available on health-related quality of life (HRQOL) and social, emotive and behavioral competences in CPP children treated with gonadotropin-releasing hormone agonists (GnRHa). This study aimed to investigate these aspects in a group of CPP girls during therapy.Methods: Fifty-four CPP...

Background: Polycystic ovary syndrome (PCOS) in adolescence has a challenging diagnosis and therefore has raised intense discussions. Its prevalence in childbearing age women ranges from 5 to 10%. However, the prevalence in obese adolescents has not yet been reported. Besides, the relationship of PCOS with metabolic and cardiovascular disorders in this specific population has not been established.Objective and hypotheses: We aimed to assess the prevalenc...

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

Background: Apparent mineralocorticoid excess (AME) is a rare congenital autosomal recessive disorder resulting from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11-β-hydroxysteroid dehydrogenase type 2, inactivating circulating cortisol to the less-active metabolite cortisone. Less than 100 cases of AME have been reported in the literature so far. Affected individuals have elevated renal concentrations of cortisol, which can cross-react and activate...

Background: There is wide geographic variation in the frequency of diabetic ketoacidosis (DKA) at onset of diabetes from ~15–70% in Europe and North America.Objective and hypotheses: To evaluate the frequency of DKA at the onset of type 1 diabetes (T1D) in the paediatric population seen in the Department of Pediatric Diabetology of Turin (Italy) from 1/1/2008 to 31/12/2013.Method: Data (venous pH and HCO3, season at the onset)...

Background: GH secretion increases physiologically during puberty and GH levels correlate with pubertal stage. Therefore, puberty is the most likely time for normalization of GH secretion in children with GHD. No studies have so far evaluated in children diagnosed as GH-deficient during childhood potential predictors of response to the reevaluation of GH secretion during puberty.Objective and hypotheses: The aim of our study is to establish and compare t...

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...