hrp0095p2-181 | Growth and Syndromes | ESPE2022

IHH gene variant causing short stature and minor skeletal disorders

García-Zarzuela Ana , Domínguez-Riscart Jesús , Rodriguez-Barrios Carmen , Morales-Pérez Celia , Karen-Heath Emma , Mª Lechuga-Sancho Alfonso

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

hrp0095p2-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital Hypopituitarism and Diabetes Insipidus with Normal Radiological Pituitary Gland and a Mutation in IRF2BPL.

Jesús Dabad Moreno María , Ruiz Cano Rafael , Carmen Carrascosa-Romero María , Cerdán Oncala Sandra , Belén Delgado García Ana , De las Heras Gómez Lucía

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

hrp0092p1-338 | Fat, Metabolism and Obesity (2) | ESPE2019

Continuous Score of Metabolic Syndrome (sSMp) in Chilean Pediatric Population is Associated with Insulin Resistance Parameters and Subclinical Endothelial Inflammation

Loureiro Carolina , Cavada Gabriel , Bancalari Rodrigo , Vecchiola Andrea , Tapia Alejandra , Baudrand René , Campino Carmen , Carvajal Cristian , Fardella Carlos , Martíinez Alejandro , García Hernán

Introduction: The dichotomous nature of the definition of Metabolic Syndrome (MS) in both children and adults can under-diagnose subjects at risk and prevents adequate follow-up of therapeutic interventions. Recently, a continuous score of MS (sSMp) was validated in the pediatric population based on the IDF criteria for a population> 16 years.Objectives: To apply sSMp in a Chilean pediatric population cohort and corr...

hrp0092p3-99 | Fat, Metabolism and Obesity | ESPE2019

"Influence of Eating Habits, Sleep Patterns and Physical Activity on Anthropometric Variables and Body Composition in Children with Obesity"

Gavela-Pérez Teresa , De Dios Olaya , Herrero Leticia , Pérez-Segura Pilar , Garcés Carmen , Soriano-Guillén Leandro

Objectives: The etiopathogenetic of childhood obesity is related to genetic and environmental factors: not only caloric intake or physical activity have an important influence, but also circadian rhythms, including healthy sleep.The objectives of this study were: a) to analyze the different patterns and duration of sleep, eating habits, meal schedules, time dedicated to exercise and screens of obesity children; b) to evaluate its possibl...

hrp0089p2-p292 | Multisystem Endocrine Disorders P2 | ESPE2018

Aldosterone, Renin, Sodium and Potassium Excretion in Normotensive Prepubertal Children

Martinez-Aguyo Alejandro , Poggi Helena , Campino Carmen , Peredo Soledad , Baudrand Rene , Carvajal Cristian , D'Apremont Ivonne , Moore Rosario , Solari Sandra , Allende Fidel , Fardella Carlos

Introduction: Previous studies have demonstrated that hypertension may begin early in the life. Under physiological conditions, the Renin-Angiotensin-Aldosterone System (RAAS) is highly variable due to variations in salt intake and other factors, making it difficult to interpret results. We measured aldosterone and renin, and compared them with sodium and potassium excretion in a normotensive pre-pubertal population.Methods: A cross-sectional study was ...

hrp0082p1-d1-65 | Diabetes | ESPE2014

Glycaemic Control and Acute Complications in European Children, Adolescents, and Young Adults With Type 1 Diabetes in the Teens Study

Phillip Moshe , Laffel Lori , Domenger Catherine , Dain Marie-Paule , Pilorget Valerie , Candelas Christophe , Danne Thomas , Mazza Carmen , Anderson Barbara , Hanas Ragnar , Waldron Sheridan , Beck Roy , Mathieu Chantal

Aims: The TEENs study is an international, cross-sectional observational study aiming to assess type 1 diabetes (T1D) management and psychosocial parameters in children, adolescents, and young adults, to identify approaches to optimise glycaemic control and outcomes. Results from 11 European countries are presented.Methods: 111 centres providing diabetes care to young T1D patients collected data by participant interview, medical record review and partici...

hrp0082p2-d3-360 | Diabetes (2) | ESPE2014

‘My Diabetes’ Application for Android Devices as a Diabetes Management Tool

Ballester Maria Jose , Santillana Luis Alberto , Varvanov Rossen , Buch-Gasz Katarzyna , Gasz Adam , Sanchez Maria Jose , Lopez Carmen Maria , Martin Elena , Palomo Enrique

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

hrp0082p2-d2-428 | Growth Hormone (1) | ESPE2014

The Interconnectivity Between GH Replacement Therapy and Subclinical Hypothyroidism on Growth Response in Children with Pituitary Dwarfism

Bodescu Ioana , Idriceanu Jeanina , Vasiliu Ioana , Manolachie Adina , Chifu Irina Oana , Crumpei Iulia , Cristea Cristina , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Background: Administration of recombinant GH (rhGH) to GH-deficient children has yielded conflicting results concerning its impact on thyroid function. Data about patients developing subclinical hypothyroidism are scanty, but it is thought to be associated with impairment of metabolic profile and lower growth response.Objective: To investigate the frequency of SH in children with pituitary dwarfism treated with rhGH, as well as its influence on rhGH ther...

hrp0082p3-d2-832 | Growth (1) | ESPE2014

The Impact of GH Replacement Therapy in Children Born Small-for-Gestational-Age: growth Response and Safety Profile

Chifu Irina Oana , Bodescu Ioana , Vasiliu Ioana , Idriceanu Jeanina , Fadur Alina , Hreniuc Ana , Ungureanu Maria Christina , Leustean Letitia , Mogos Voichita , Vulpoi Carmen

Background: Children born small-for-gestational-age (SGA) have a birth weight below 2,500 g at a gestational age over 37 weeks or a birth weight or length below the 3-rd percentile for gestational age. They usually recover growth during the first 6–12 months of life, but if not so, it is unlikely the recovery to happen after the age of two unless GH replacement therapy is initiated.Objective: The aim of this study was to evaluate the 1-st year growt...

hrp0084p2-195 | Adrenals | ESPE2015

Serum Cortisol and Cortisone Ratio as Sensitive Tool to Identify Subjects With Severe or Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Carvajal Cristian , Iturrieta Virginia , Campino Carmen , Valdivia Carolina , Lizama Jaime , Allende Fidel , Solari Sandra , Baudrand Rene , Lagos Carlos , Vecchiola Andrea , Martinez-Aguayo Alejandro , Garcia Hernan , Fardella Carlos

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...