hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0086p1-p43 | Adrenal P1 | ESPE2016

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Godoy Claudia , Seiltgens Cristian , Fardella Carlos , Lacourt Patricia , Pinochet Constanza , Carvajal Cristian

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

hrp0086p1-p129 | Bone & Mineral Metabolism P1 | ESPE2016

Trabecular Bone Score in Children from Mexico City: Preliminary Report

Angel Guagnelli Miguel , Gomez-Diaz Rita , Ambrosi Regina , Winzenrieth Renaud , Clark Patricia

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

hrp0086p2-p572 | Perinatal Endocrinology P2 | ESPE2016

Sirolimus Therapy in Infant with Congenital Hyperinsulinemic Hypoglycemia Unresponsive to Diaxoside

Garfias Carolina , Godoy Claudia , Rumie Karime , Lacourt Patricia , Basaure Javiera , Garcia Angelica

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

hrp0086p1-p814 | Syndromes: Mechanisms and Management P1 | ESPE2016

Changes to Thyroid Function (TF) Following Treatment with Growth Hormone (GH) Therapy in Children with Prader-Willi Syndrome (PWS)

Musthaffa Yassmin , Scheermeyer Elly , Hughes Ian , Harris Mark , Crock Patricia , Leong Gary

Background: Normal TF is necessary for optimal growth. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH therapy are reported. GH therapy has been suggested to centrally inhibit TSH production as well as peripherally increasing T4 to T3 conversion which increases negative feedback on TSH production. Hypothalamic dysfunction is a feature of PWS, therefore these patients may be at risk of developing central hypothyroidism associated with GH therapy.<p cla...

hrp0086p1-p899 | Thyroid P1 | ESPE2016

Clinical and Histopathologic Features and Follow-up of Paediatric Patients with Papillary Thyroid Cancer: A 10 Years Experience

de Jesus Zuart Ruiz Roberto , Serrano Bello Carlos Alberto , Sauza Jorge Cortes , Bravo Patricia Medina

Background: The incidence of paediatric papillary thyroid cancer (PTC) is increasing.Objective and hypotheses: To describe the clinical and histopathologic features at diagnosis, and follow-up of paediatric patients with PTC at Children’s Hospital of Mexico in a 10 years period.Method: Comparative longitudinal study. We included 22 paediatric patients with histopathologic diagnosis of PTC between 2004–2014, divided into r...

hrp0082p1-d1-233 | Thyroid | ESPE2014

TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia

Scaglia Paula , Keselman Ana , Papendieck Laura Gruneiro , Papendieck Patricia , Bergada Ignacio , Domene Horacio , Chiesa Ana

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

hrp0082p3-d2-721 | Diabetes (1) | ESPE2014

Glycemic Variability and Metabolic Control in Pediatric Patients with Type 1 Diabetes Mellitus

Martin-Frias Maria , Roldan M Belen , Alonso M Milagros , Oyakawa Yoko Patricia , Alonso Daniel , Barrio Raquel

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

hrp0084p2-215 | Bone | ESPE2015

Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

Gusso Silmara , Colle Patricia , Derraik Jose G B , Biggs Janene , Munns Craig , Cutfield Wayne , Hofman Paul

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

hrp0084p2-277 | Diabetes | ESPE2015

Psychosocial Screening in Children with Type 1 Diabetes in Ireland

Hennessy Elena , Gallagher Patricia , Butler Triona , O'Toole Norma , O'Connell Susan M , O'Riordan Stephen M P

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...