ESPE Abstracts

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...