hrp0082p2-d2-427 | Growth Hormone (1) | ESPE2014

Effects and Safety of Recombinant Human GH in GH Deficient Children with Rathke Cyst

Liang Liyang , Zhang Lina , Meng Zhe , Ou Hui , He Zhanwen , Hou Lele , Li Dongfang , Li Pinggan , Luo Xiangyang

Objective: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) children with Rathke cyst.Methods: The clinical data of 12 GHD children aged from 5–12 years old, whose radiologic diagnosis showed Rathke cyst during Jan 2010–Dec 2012 in our hospital, were analyzed retrospectively. rhGH was given subcutaneously to each enrolled child with a night dose of 0.1 IU/kg six to seven times a week for 12–30 months. T...

hrp0082p3-d1-709 | Diabetes | ESPE2014

Continuous Subcutaneous Insulin Infusion Therapy in Preschool Children with Type 1 Diabetes Mellitus

Moinho Rita , Martins Dora , Almeida Angela , Maia Estefania , Batista Nanci , Aveiro Lina , Capitao Rita , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: A good metabolic control in preschool children with type 1 diabetes (DM1) is particularly challenging, being easier and safer with continuous subcutaneous insulin infusion (CSII) compared with multiple daily injections (MDI).Objective and hypotheses: Evaluate and compare metabolic control of preschool children with DM1, before and 9 months after CSII therapy.Method: Analytical retrospective study of children under the a...

hrp0082p3-d3-755 | Diabetes (4) | ESPE2014

Multiple Daily Injections Since the Diagnosis of Type 1 Diabetes Mellitus in Children and Adolescents: Assessment of 3 Years

Cardoso Rita , Martins Dora , Batista Nanci , Aveiro Lina , Capitao Rita , Ribeiro Helena , Freitas Filomena , Simao Luisa , Dinis Isabel , Mirante Alice

Background: Functional insulin therapy allows precise insulin adjustments to achieve normoglycaemia.Objective and hypotheses: To assess metabolic control (A1c) and lipid profile in children and adolescents with DM1 in a 3-year period under multiple daily injections (MDI) since the diagnosis.Method: Retrospective analysis of children and adolescents under functional insulin therapy since the diagnosis of DM1. The variables studied w...

hrp0082p2-d3-345 | Diabetes (2) | ESPE2014

Improvement in Type 1 Diabetes Mellitus Metabolic Control: From Conventional to Functional Insulin Therapy

Serra-Caetano Joana , Ferreira Sara , Lourenco Helena , Aveiro Lina , Batista Nanci , Freitas Filomena , Simao Luisa , Cardoso Rita , Dinis Isabel , Mirante Alice

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...

hrp0089p1-p268 | Thyroid P1 | ESPE2018

Analysis of Zinc-Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Michalak Justyna , Rydzewska Marta , Bossowski Artur

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

hrp0086p1-p237 | Diabetes P1 | ESPE2016

The Prevalence of Diabetic Ketoacidosis in Children with New-Onset Type 1 Diabetes Mellitus

Niechcial Elzbieta , Gertig-Kolasa Anna , Krzysko-Pieczka Izabela , Skowronska Bogda , Stankiewicz Witold , Michalak Michal , Fichna Piotr

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...

hrp0084p3-632 | Autoimmune | ESPE2015

Thyroid Function and Autoimmunity in Children with Newly Diagnosed Type 1 Diabetes Mellitus

Niechcial Elzbieta , Skowronska Bogda , Gertig-Kolasa Anna , Krzysko Izabela , Stankiewicz Witold , Michalak Michal , Fichna Piotr

Background: Patients with type 1 diabetes (T1DM) are at a high risk of having other autoimmunological diseases. The most common coexisting disease is autoimmune thyroiditis, which is diagnosed in 15–30% diabetic patients. The incidence of the disease depends on the age, sex, and duration of T1DM.Aims and objectives: This study aims to assess the prevalence of anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies in children with newly...

hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...

hrp0089rfc11.4 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry

Cuk Mario , Lian Jayson , Kahlfuss Sascha , Kozhaya Lina , Vaeth Martin , Rieux-Laucat Frederic , Picard Capucine , Benson Melina J , Jakovcevic Antonia , Bilic Karmen , Martinac Iva , Stathopulos Peter , Kacskovics Imre , Vraetz Thomas , Speckmann Carsten , Ehl Stephan , Issekutz Thomas , Unutmaz Derya , Feske Stefan

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...

hrp0097t18 | Section | ESPE2023

Pubertal origin of growth retardation in Inborn Errors of Protein Metabolism: A longitudinal cohort study

Busiah Kanetee , Roda Célina , Crosnier Anne-Sophie , Brassier Anaïs , Wicker Camille , Ottolenghi Chris , Pontoizeau Clément , Souberbielle Jean-Claude , Piketty Marie-Liesse , Perin Laurence , Le Bouc Yves , Arnoux Jean-Baptiste , Imbard Apolline , Netchine Irène , de Lonlay Pascale

Background: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. Nutritional amino-acid mixtures (AMM) free of the poorly metabolised amino-acids by the enzyme block, improve nutrition. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We aimed to: 1/ describe growth and puberty in IAAMDs 2/ investigate associations linking height, IGF1 and IGFBP3 with AAM an...