hrp0089p3-p196 | GH & IGFs P3 | ESPE2018

Main Discrepancies between Predicted and Observed Growth Responses with iGRO in Children Treated with GHr in Spain

Palma Cristina Mora , Martin Nerea Itza , Fernandez Julio Guerrero , Fresno Luis Salamanca , Bonis Ana Coral Barreda , Casado Isabel Gonzalez

Introduction: Growth prediction algorithms (i.e. iGRO), provide an estimate of a patients’ likely growth in the first year, and subsequent years, of GH treatment at a given dose, taking into account the patient’s combination of physical characteristics. Comparing a patient’s actual growth with their predicted growth after the first year of GH treatment, it is possible to determine whether the patient is responding to GH as expected (Index of responsiveness; IoR)...

hrp0089p2-p262 | Growth & Syndromes P2 | ESPE2018

Identification of a Novel Heterozygous ACAN Mutation in a Patient with Non-Syndromic Short Stature

Partenope Cristina , Gallo Dario , Damia Chiara Maria , Adavastro Marta , Fioretti Lorenzo , Pitea Marco , Weber Giovanna , Pozzobon Gabriella

Aggrecan, encoded by ACAN, is a major proteoglycan component in the extracellular matrix of the growth plate. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. A 6-year-old boy was referred to our Centre for short stature (height 103.60 cm, −3.14 SDS) in familial short stature. Mid-Parental target height was 161.15 cm (−2.38 SDS); His father (height 167.3 cm) is from...

hrp0089p2-p323 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Growth Hormone Deficiency (GHD) in a Patient with Persistence of the Craniopharyngeal Canal with Cephalocele

Caiulo Silvana , Pitea Marco , Partenope Cristina , Gallo Dario , Damia Chiara , Adavastro Marta , Fioretti Lorenzo , Barera Graziano , Weber Giovanna , Pozzobon Gabriella

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...

hrp0089p3-p293 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Two Identical Twins … But not in Everything. A Difficult Diagnosis

Damia Chiara Maria , Gallo Dario , Partenope Cristina , Pitea Marco , Fioretti Lorenzo , Adavastro Marta , Pajno Roberta , Weber Giovanna , Barera Graziano

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

hrp0089p3-p370 | Thyroid P3 | ESPE2018

Thyroid Carcinoma in Children: 7 Years’ Experience of a Single Center

Preda Cristina , Ciobanu Gabriela Delia , Ungureanu Maria-Christina , Leustean Letitia Elena , Teodoriu Laura , Balaceanu Raluca , Grigorovici Alexandru

Introduction: Thyroid cancer is the most common pediatric endocrine cancer, constituting 0.5%–3% of all childhood malignancies. Cancer can be present in multinodular thyroid disease but the majority of malignant nodules are solitary. Thyroid malignancies in children are almost always well differentiated.Aim: Prevalence, clinical features, pathological profile and therapy of thyroid cancer in children.Patients and method: Retro...

hrp0086p2-p264 | Diabetes P2 | ESPE2016

Clinical, Biochemical, Genetic and Immunological Features of Mexican Recent-Onset Type 1 Diabetes Patients

Perez Marco Antonio Morales , Herrera Blanca Estela Aguilar , Castaneda Mayra Cristina Torres , Paulin Lorena Lizarraga , Diaz Rita Angelica Gomez

Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.Objective and hypotheses: To compare biochemical, genetic and immunological features of ...

hrp0086p1-p469 | Fat Metabolism and Obesity P1 | ESPE2016

Assessment of Adherence to Mediterranean Diet during a Weight Loss Intervention in Children with Cardiometabolic Risk

Morell-Azanza Lydia , Ochotorena-Elicegui Amaia , Catalan-Lamban Ana , Chueca Maria , Marti Amelia , Azcona San Julian Cristina

Background: Dietary patterns have notably changed in Mediterranean countries during the last decades. Mediterranean diet (MeDiet) is associated with lower prevalence of cardiometabolic diseases.Objective and hypotheses: To assess adherence to MeDiet in children and adolescents with abdominal obesity during a comprehensive weight loss intervention.Method: Children and adolescents with abdominal obesity (waist circumference >p90)...

hrp0086p2-p648 | Growth P2 | ESPE2016

Congenital Hypopituitarism: Genotypic–Phenotypic–Neuroradiological Correlation

Pozzobon Gabriella Cinzia , Partenope Cristina , Gallo Dario , Damia Chiara , Lezzi Marilea , Pajno Roberta , Marinella Gemma , Osimani Sara , Weber Giovanna

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...

hrp0086p2-p657 | Growth P2 | ESPE2016

Septo-Optic Dysplasia and Excellent Growth with Low Growth Hormone Dose: Our Experience

Pozzobon Gabriella Cinzia , Marinella Gemma , Damia Chiara , Partenope Cristina , Gallo Dario , Pajno Roberta , Osimani Sara , Weber Giovanna

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...