ESPE Abstracts

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

Introduction: Hepatic steatosis(HS) is a frequent finding in obese children. Insulin resistance, hypertriglyceridemia and abdominal circumference (AC) are known risk factors, similar to Metabolic Syndrome (MS), but the precise pathophysyology remains unexplained.Objectives: To analyze the prevalence of HS as identified by ultrasound as well as acanthosis Nigricans (AN) in two groups of obese patients; with or without presence of MS; by studying anthropom...

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

Background: Skeletal dysplasia is the main cause of disproportionate short stature. The severity may vary. The present patient had disproportionate short stature with brachydactyly.Patient and method: A boy of 5 years old presented with height 108.9 cm (−1.8 S.D.), sitting height/height ratio was +3.4 S.D., short hands and feet with short metacarpal 4 and metatarsal 4 on both sides. He had increased lumbar lordosis and...

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...