ESPE Abstracts

Background: ROHHAD(NET) syndrome has been proposed as an acquired neuroimmunological dysfunction. Aim of the study is to compare the phenotype of lymphocyte subpopulations in patients vs controls and to evaluate the plasma levels of pro-inflammatory cytokines/chemokines in ROHHADNET syndrome.Patients and Methods: We included 14 patients (9F;5M), selected by clinical criteria, matched with 11 controls with simple obesity ...

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...

Introduction and Aim of the Study: girls with previous pediatric medulloblastoma (MB) are at risk of short stature and impairment of the hypothalamic pituitary gonadal function due to multiple risk factors;our aim was to assess the impact of hypergonadotropic hypogonadism (HH) on growth up to final height (FH) in females with or without growth hormone deficiency (GHD).Methods: anthropometrics (height-Ht-SDS, BMI-SDS, Tan...

Introduction: Bone Health Index (BHI) determined by measurement of cortical thickness of metacarpalia II-IV in x-rays of the left hand represents a method to estimate bone health in children. Aim of this study was to investigate changes of BHI SDS in the course of growth hormone (GH) treatment.Method: 256 consecutive children with short stature (isolated GH deficiency (IGHD) n = 121, multiple pituitary hormone deficiency...

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....

Aims/hypothesis: The Wolfram syndrome, also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness), is mostly associated with recessive mutations in the WFS1 gene. However, dominant mutations in the WFS1 gene were described as causing less severe Wolfram-like syndrome, or isolated optic atrophy, or low-frequency sensorineural hearing loss.Method...

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

Background: Rodent models of leptin inactivity show progressive obesity due to exaggerated food intake. In humans, only rare monogenic cases of leptin deficiency and almost absent circulating leptin levels have been identified. Recently, two cases of children with early onset massive obesity due to biofunctionally inactive leptin in the face of normal total levels have been identified.Objective and hypotheses: Here we aimed to identify leptin inactivity ...

Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).Cases report: We present 3 cases: 2 females and 1 male with specific clinical features...