ESPE Abstracts

Background: Isolated growth hormone deficiency is the most common pituitary hormone deficiency, although the majority of cases are idiopathic. The presence of pituitary structural abnormalities may influence growth hormone (GH) deficiency severeness.Objective: Assess the effect of pituitary abnormalities in idiopathic isolated growth hormone deficiency (IIGHD).Methods: We analysed 65 children with IIGHD and pituitary magnetic resso...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Background: There is a direct relation between C-reactive protein and leukocyte count as indicators of inflammation. The neutrophil lymphocyte ratio (NLR) is the balance between both cells and is considered a marker of low-grade inflammation and an indicator of high risk of cardiovascular events. An elevated NLR is related with type 2 diabetes (T2D), however, even when in type 1 diabetes (T1D) there is an underlying inflammatory process, an elevation of circulating neutrophils...

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

Background: Type 1 diabetes mellitus (1DM) is a common chronic disease of childhood. Treatment targets the best metabolic control in order to prevent long-term complications.Objective: To evaluate metabolic control in children and adolescents with 1DM along the years. Methods: Retrospective study including 1DM children and adolescents with more than 2 years of disease. Data were collected at 2005 and at 2012: sex, age at diagnosis, therapy in the last ye...

Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple ...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...