hrp0082fc8.1 | Fat Metabolism | ESPE2014

Activation of the ER Stress Response in Cultured Human Umbilical Vein Endothelial Cells by Plasma Obtained from Prepubertal Obese Children

de Giorgis Tommaso , Di Silvestre Sara , Mohn Angelika , Di Pietro Natalia , Marcovecchio Maria Loredana , Cordone Vincenzo , Mandatori Domitilla , Chiavaroli Valentina , Bologna Giuseppina , Pandolfi Assunta , Chiarelli Francesco

Background: Childhood obesity is commonly associated with signs of endothelial dysfunction, characterized by impairment of insulin signaling and vascular NO availability. Recently both these features have been associated with endoplasmic reticulum (ER) stress, however the role of ER stress in the mechanism/s leading to vascular dysfunction in childhood obesity remains still to be established.Objective and Hypotheses: To evaluate ER stress and insulin-sti...

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...

hrp0082p2-d3-350 | Diabetes (2) | ESPE2014

Wellbeing of Adolescents with Type 1 Diabetes: Influence of Metabolic Control and Family Factors

Vanbesien Jesse , Berlanger Laurence , Bohler Susanne , Laridaen Jolien , Gies Inge , Van Aken Sara , De Waele Kathleen , Cools Martine , Maris Ellen , Vanderfaeillie Johan , De Schepper Jean

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

hrp0082p3-d2-828 | Growth (1) | ESPE2014

Growth Response After 1 Year of GH Treatment in Children Born Small for Gestational (SGA) Without GH Deficiency: our Experience

Garbetta Gisella , Pozzobon Gabriella , Osimani Sara , Damia Chiara , Ferrarello Maria Piera , Voto Andrea , Pruccoli Giulia , Partenope Cristina , Weber Giovanna , Chiumello Giuseppe

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

hrp0084p3-805 | DSD | ESPE2015

Patient with Primary Amenorrhea and Glomerular Nephropathy

Santini Sara , Phan-Hug Franziska , Xu Cheng , Lamine Faiza , Moser Nicolas , Surbone Anna , Mathevet Patrice , Lhermitte Benoit , Achtari Chahin , Pitteloud Nelly

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

hrp0084p3-821 | Endocrine Oncology | ESPE2015

Primary Hypogonadism after Haematopoietic Stem Cell Transplant in Paediatric Patients with Cancer

Alemany Maria Del Carmen De Mingo , Orti Raquel Segovia , Macian Francisca Moreno , Carinena Sara Leon , Moreno Maria Del Mar Andres , Navarro Jose Maria Fernandez

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

hrp0094fc4.3 | Diabetes | ESPE2021

Aldosterone and pro-atrial natriuretic peptide kinetics in response to rehydration in children with diabetic ketoacidosis

Burckhardt Marie-Anne , Otto Marije , Gotta Verena , Beglinger Svetlana , Bachmann Sara , Hess Melanie , Rentsch Katharina , Koch Gilbert , Davis Elizabeth , Zumsteg Urs , Jones Tim , Pfister Marc , Szinnai Gabor ,

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...

hrp0094p1-109 | Adrenal B | ESPE2021

Plasma steroid panel with liquid chromotography-mass spectrometry (LC/MS-MS) method: utilization in differential diagnosis of hyperandrogenism

Ucar Mert , Ata Aysun , Barutcuoğlu Burcu , Ak Guneş , Habif Sara , Parıldar Zuhal , Gokşen Damla , Darcan Şukran , Ege Samim Ozen ,

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

hrp0097p1-31 | Diabetes and Insulin | ESPE2023

Metabolic trajectories during treatment of diabetic ketoacidosis described by breath analysis

Awchi Mo , Dev Singh Kapil , Bachmann-Brenner Sara , Burckhardt Marie-Anne , Hess Melanie , Zumsteg Urs , Zeng Jiafa , N. Datta Alexandre , Frey Urs , Szinnai Gabor , Sinues Pablo

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

hrp0095p1-16 | Adrenals and HPA Axis | ESPE2022

Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiency

Kotnik Primoz , Krasovec Tjasa , Sikonja Jaka , Zerjav Tansek Mojca , Debeljak Marusa , Ilovar Sasa , Trebusak Podkrajsek Katarina , Bertok Sara , Tesovnik Tine , Kovac Jernej , Suput Omladic Jasna , F Hartmann Michaela , A Wudy Stefan , Avbelj Stefanija Magdalena , Battelino Tadej , Groselj Urh

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...