hrp0082p2-d3-477 | Hypoglycaemia | ESPE2014

Opioid-Induced Endocrinopathy in a Toddler with Chronic Codeine Intoxication

Van Aken Sara , Van Der Straaten Saskia , De Waele Kathleen , Cools Martine , Craen Margarita , De Schepper Jean

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

hrp0082p2-d1-565 | Sex Development | ESPE2014

Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development

Fabbri Helena , de Andrade Juliana Gabriel Ribeiro , Maciel-Guerra Andrea Trevas , Guerra-Junior Gil , de Mello Maricilda Palandi

Background: Disorders of sex development (DSD) characterize incomplete or disorganized genital or gonadal development. One in 4500 births requires genetic and endocrine studies due to abnormal external genitalia or gonadal dysgenesis and only 50% of the cases receive a definitive diagnosis. There are several genes that participate in both sex determination and differentiation processes. Mutations in NR5A1 gene, which encoding SF1, a transcription factor, are responsib...

hrp0084p3-694 | Diabetes | ESPE2015

Elastargene 3C Helps to Improve HbA1c in Children and Adolescents with Type 1 Diabetes Using Insulin Pump Therapy

Scaramuzza Andrea , Ferrari Matteo , Macedoni Maddalena , De Angelis Laura , Redaelli Francesca , De Palma Alessandra , Zuccotti Gian Vincenzo

Background: Elastargene 3C (E3C) is a cream specifically designed to improve lipoatrophy in patients with diabetes. It is made by many ingredients, among whom are elastin, arnica, collagen, caffeine, and L-carnitine.Objective and hypotheses: We started a 6-month, double-blind, randomized trial to test the efficacy of E3C in children with type 1 diabetes (T1D) using insulin pump (CSII), in whom infusion set usually left little withe scars.<...

hrp0094p2-459 | Thyroid | ESPE2021

Incidence and etiology of primary congenital hypothyroidism in Flanders

Ryckx Sofie , De Mey Lynn , Marcelis Lionel , Vanbesien Jesse , Gies Inge , Staels Willem , Regal Luc , De Schepper Jean

Background and aims. In several European countries, the incidence of primary congenital hypothyroidism (PCH) seems to increase in the last decade, especially in countries that have lowered the newborn screening TSH cutoff. In Flanders, two centers manage since 2012 the newborn screening for PCH and these maintained the same TSH assay (Delphia, Perkin Elmer) and cutoff (15 mU/l). We studied the current incidence and etiology of PCH and initiation of thyroxine treatment in Fland...

hrp0094p2-99 | Diabetes and insulin | ESPE2021

Glycemic Dysregulation During Treatment Of Childhood Hematologic Malignancies.

Welsch Sophie , Sawadogo Kiswendsida , Brichard Benedicte , Ville de Goyet Maelle de , Van Damme An , Boulanger Cecile , Lysy Philippe ,

Background: Secondary forms of diabetes mellitus (DM) are underdiagnosed in children and adolescents with cancer because despite the whole body of evidence that asparaginase, steroids and total body irradiation increase the risk of developing DM, risk factors are missing and – asides from treatments – understudied (e.g., pre-existing obesity, sex, age, ethnicity, family history of DM). The objectives of our study were to assess the incidence and asso...

hrp0089p1-p216 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD

De Ridder Jeroen , Bashamboo Anu , Baere Elfride De , Krone Nils , Mitchell Rod , Meyts Ewa Rajpert-De , Tobias Ed , Looijenga Leendert , Achermann John , Werner Ralf , Ahmed Faisal , Hiort Olaf , Greenfiled Andy , McElreavey Ken

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

hrp0082p1-d3-170 | Growth (2) | ESPE2014

The ZOMATRIP Study: 4 Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Interim Results at the End of the Treatment Phase

Rooman Raoul , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Masa Guy , Lebrethon Marie-Christine , Bourguignon Jean-Pierre , Gies Inge , Van Besien Jesse , De Rycke Christine , De Schepper Jean

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...

hrp0084p3-1159 | Puberty | ESPE2015

Testotoxicosis: Be Careful to Predict the Final Height!

Souza Leticia Guimaraes de , Bastos Paula de Magalhaes Velasco , Pinheiro Claudia Teixeira Cabido , Steinmetz Leandra , Cominato Louise , Dichtchekenian Vae , Manna Thais Della , Kuperman Hilton , Filho Hamilton de Cabral MEnezes , Damiani Durval

Background: Familial male-limited precocious puberty, known as testotoxicosis, is an autosomal dominant disease that leads to the activation of luteinizing hormone receptor. It presents with progressive virilization, advanced bone age and linear growth acceleration and may lead to loss in predicted adult height. We report the case of a patient diagnosed with testotoxicosis at two years of age.Case presentation: Two-year-old boy with penis enlargement and...

hrp0089fc5.4 | Thyroid | ESPE2018

Thyroid Hormone Analog Therapy in Patients with MCT8 deficiency: the Triac Trial

Groeneweg Stefan , de Coo Rene , van Beynum Ingrid , van der Knoop Marieke , Aarsen Femke , de Rijke Yolanda , Peeters Robin , Visser Theo , Visser Edward

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

hrp0089p2-p126 | Fat, Metabolism and Obesity P2 | ESPE2018

Serum Calprotectin Level in Children: Marker of Obesity and Its Metabolic Complications

Calcaterra Valeria , Amici Mara De , Silvestri Annalisa De , Michev Alexandre , Montalbano Chiara , Regalbuto Corrado , Schiano Luca Maria , Cena Hellas , Larizza Daniela

Aim: Circulating levels of calprotectin have been reported in obesity-related chronic low-grade inflammation in adults, but has not been evaluated in pediatric population. We investigated serum calprotectin in overweight and obese children and its association with metabolic comorbidities.Methods: We enrolled 131 children (11.7±4.1 years). According to BMI, the subjects were divided into three groups: obese >95th percentile; overweight BMI 75th&#...