hrp0084p1-55 | Diabetes | ESPE2015

Intrauterine Growth Restriction is Associated with Greater Severity in Childhood Obesity-Associated Metabolic Impairment and Poorer Adult Height Prediction

Gonzalez-Leal Rocio , Martinez-Villanueva Julian , Argente Jesus , Martos-Moreno Gabriel A.

Background: Intrauterine growth influences the risk of childhood obesity and its associated metabolic derangement.Objective and hypotheses: To investigate the effect of intrauterine growth (as shown by newborn anthropometry) on physical and metabolic features in obese children and adolescents.Method: A retrospective study of 1049 obese children and adolescents (46.8% females/53.2% males; age: 10.31±3.23 years; BMI: +4.00±...

hrp0084p2-356 | Fat | ESPE2015

Physical and Metabolic Evolution of Obese Children and Adolescents after the Attainment of Intense Weight Reduction

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Argente Jesus

Background: Despite the lack of drugs, conservative management of childhood obesity allows for considerable weight reduction.Objective and hypotheses: i) To evaluate anthropometric and metabolic changes in obese children after intense weight loss. ii) To analyze the influence of the amount of weight loss and the time spent to attain it on the observed changes. iii) To investigate BMI evolution during the first 3 years after weight reduction.<p class=...

hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

hrp0092p3-223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Indentification of a de Novo Mutation in the SRY Gene in a 46,XY Complete Gonadal Dysgenesis Patient with Gonadal Neoplasia and Review of Tumor Risk in 46,XY DSD Patients

He Minfei , Chen Hong , Zhu Yilin , Fang Yanlan , Zhu Jianfang , Liang Li , Wang Chunling

Objective: To determine the mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with bilateral gonadoblastoma and coexisting dysgerminoma. Evaluate the functional consequence of mutated SRY gene in the tumor risk of 46,XY DSD.Methods and Materials: The proband was a 13-year-old girl who was admitted for examination due to undeveloped secondary sexual characteristics. She had no breas...

hrp0082fc11.3 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations*

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0082p1-d3-185 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0095p2-178 | Growth and Syndromes | ESPE2022

A Rare Cause of Proteinuria Presenting with Short Stature, Cataract, and Dysmorphic Findings: Lowe Syndrome with A Novel de Novo Mutation in the OCRL1 Gene

Gürbüz Fatih , Bilginer Gürbüz Berrak , Özalp Yüreğir Özge , Çayır Atilla

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

hrp0089lb-p5 | Late Breaking P1 | ESPE2018

Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation

Valencia Gina Marcela Gonzalez , Castaneda Jessica Lorena Gonzalez , Avendano Maria Camila Velandia , Cadena Fabio Camilo Suarez , Fontecha Eliana Rocio Arango , Diaz Andres Felipe Ochoa , Rojas Victor Clemente Medonza

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

hrp0097p1-536 | Multisystem Endocrine Disorders | ESPE2023

Development and implementation of a Pediatric Endocrinology Education Program in Francophone Africa(In French: Programme de formation en Endocrinologie et Diabètologie Pédiatrique pour l’Afrique subsaharienne Francophone [PEDAF])

Niang Babacar , Boiro Djibril , Bretones Patricia , Chetcha Bodieu Adèle , de Beaufort Carine , Ladjouze Asmahane , Léger Juliane , Mbono Betoko Ritha , Vassili Missambou Mandilou Steve , Sap Ngo Um Suzanne , von Oettingen Julia , Chanoine Jean-Pierre

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...