hrp0097p2-110 | Thyroid | ESPE2023

A 5-year study on the incidence of Congenital Hypothyroidism in Gertrude’s Children’s Hospital Nairobi, Kenya.

Kahssay Menbere , Ngwiri Thomas

Background: Congenital hypothyroidism (CHT) is one of the most common congenital endocrine disorders. The study will determine the incidence of CHT and describe demographic characteristics and developmental outcomes in children attending Gertrude’s children’s hospital, Nairobi Kenya over 5-year, period.Objective: To determine the incidence of congenital hypothyroidism, developmental outcome, and demographic c...

hrp0092p1-43 | Fat, Metabolism and Obesity | ESPE2019

Association of Biomarkers of Endothelial Dysfunction with MicroRNAs Levels in Overweight and Obese Adolescentes

Huang Fengyang , Brianza-Padilla Malinalli , Bonilla-Jaime Herlinda , del-Río-Navarro Blanca Estela , Villafaña-Rauda Santiago , Romero-Nava Rodrigo , Sánchez-Muñoz Fausto

Background and Aims: MicroRNAs play important regulatory roles in cholesterol homeostasis and endothelial dysfunction. The aim of present study was to characterize the expression of miRNAs in overweight/obese adolescents and to identify the possible correlation with metabolic profile and inflammatory biomarkers.Methods: 79 overweight and obese adolescents aged 13.0±2.0 years and 28 normal weight adolescents aged 13....

hrp0095p1-403 | Adrenals and HPA Axis | ESPE2022

Outcomes of treatment in pediatric Cushing`s disease

Yanar Eda , Makazan Nadezhda , Kareva Maria

Objective: The first line of treatment for Cushing`s disease (CD) is transsphenoidal surgery (TSS), whose effectiveness range is from 70 to 90%. If surgical treatment is unsuccessful or recurrence appears, radiation treatment (RT) is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher.Aim: Analysis of recurrence rates of CD and side ...

hrp0089p2-p128 | Fat, Metabolism and Obesity P2 | ESPE2018

Leptin and Cytokines are Not the Best Markers for Metabolic S

Cuartero Beatriz Garcia , Vergaz Amparo Gonzalez , Lacalle Concepcion Garcia , Escudero Veronica Sanchez , Salado Laura Sanchez , Larramendi Carmen Hernando de

Introduction: Leptin, some cytokines and triglycéride/colesterol -HDL ratio (TG/C-HDL ratio) are markers of insulin-resistance in children and adolescents with overweight/obesity. Due to the high prevalence of this pathology it’s necessary to find and easy and better routinely marker that identify these patients in the outpatient clinic. Previous results demonstrated that TG/C-HDL ratio >2 was a better predictor of metabolic syndrome (sensitivity 100%; specificit...

hrp0084fc2.3 | Bone & Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0082p3-d3-838 | Growth (2) | ESPE2014

Analysis of the Effectiveness of Treatment with GH in a Tertiary Hospital in the Last 30 Years

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Gomez Ma Elena Gallego , Pozo Jaime Sanchez del

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

hrp0094p2-391 | Pituitary, neuroendocrinology and puberty | ESPE2021

Cushing’s disease in paediatric patients: Diagnosis and evolution

Messaoudi Najoua , Assarrar Imane , Bouichrat Nisrine , Karrou Marouan , Rouf Siham , Latrech Hanane ,

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

hrp0095p1-139 | Multisystem Endocrine Disorders | ESPE2022

“Cushing’s syndrome in a girl with Carney Complex: a case report”

Rivetti Giulio , Caterina Luongo , Aiello Francesca , Miraglia Del Giudice Emanuele , Marzuillo Pierluigi , Di Iorio Giovanni , Pellino Valeria , Grandone Anna

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

hrp0097p2-73 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

When the infant makes the diagnosis of Biermer's disease of his mother

Kefi Ahlem , Marzouk Asma , Gaarbaa Altaf , Thebti Rahma , Laajili Mariem , Mzoughi Oumaima , Ben Hssine Sarra , Friha Farida , Bouaziz Asma

Introduction: The nutritional status of young breastfed infants is sometimes dependent on the nutritional status of their mothers. Investigation of poor infant weight gain should take into account possible nutritional diseases of the mothers including Biermer's disease.Objective: through a clinical case, remind the importance of exploring the nutritional status of mothers of exclusively breastfed infants with poor w...

hrp0092p1-154 | Thyroid | ESPE2019

Association of Hashimoto's Thyroiditis with Antistreptolysin O titer

Voutetakis Antonis , Kanaka-Gantenbein Christina , Gryparis Alexandros , Dacou-Voutetakis Catherine

Background: Hashimoto's Thyroiditis (HT) is a relatively common autoimmune disorder that involves both cellular and humoral immunity, the latter characterized by the presence of antithyroid antibodies. Nevertheless, despite the large number of relevant studies, the underlying pathogenetic mechanisms still remain unclear; evidence and indications pointing to both genetic and environmental components. Genetic studies have uncovered molecular associations tha...