hrp0097p1-76 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of Clinical Characteristics of Patients Diagnosed with Syndromic Obesity

Özalp Kızılay Deniz , Gül Balkı Hanife , Arslan Emrullah , Turkut Tan Türkan , Jalilova Arzu , Işık Esra , Gökşen Damla , Darcan Şükran , Özen Samim

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...

hrp0097p1-265 | Fat, Metabolism and Obesity | ESPE2023

Evaluation of Clinical and Genetic Characteristics of Non-Syndromic Monogenic Obese Patients

Özalp Kızılay Deniz , Durmaz Asude , Arslan Emrullah , Jalilova Arzu , Gül Balkı Hanife , Aykut Ayça , Gökşen Damla , Darcan Şükran , Özen Samim

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

hrp0082p3-d3-749 | Diabetes (4) | ESPE2014

Hyperglycemia: MODY: a Diagnosis to Remember

Monteiro Ricardo , Fitas Ana Laura , Amado Marta , Pina Rosa , Lopes Lurdes

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

hrp0086p1-p450 | Fat Metabolism and Obesity P1 | ESPE2016

Severe Hypertriglyceridemia in Pediatric Oncology Patient

Grau Gema , Portillo Nancy , Almaraz Ricardo Lopez , Echebarria Aizpea , Adan Rosa , Rodriguez Amaia , Vela Amaia , Astigarraga Itziar , Rica Itxaso

Background: Severe Hypertriglyceridemia (HTG) defined as triglycerides (TG) in blood plasma higher than 1000 mg/dl is a rare condition in childhood. Its causes are classified as primary and secondary and among these last they include pharmacological causes. Steroids associated with some chemotherapy drugs, particularly asparaginase (Asp), are a combination with special risk.Objective and hypotheses: Describe the evolution of lipids profile in LLA patient...

hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

Mendoza Carolina , Garfias Carolina , Seiltgens Cristian , Silva Ricardo , Hodgson Isabel , Ugarte Francisca , Flanagan Sarah , Ellard Sian , Garcia Hernan

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

hrp0094p2-248 | Growth hormone and IGFs | ESPE2021

Reduction in pappalysin and stanniocalcin levels explain the decrease in IGF-I bioavailability in anorexia nervosa

Martin-Rivada Alvaro , Guerra-Cantera Santiago , Campillo-Calatayud Ana , Camarneiro Ricardo , Graell Montserrat , Barrios Vicente , Argente Jesus ,

Background: Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) are novel regulators of the GH-IGF axis, modulating IGF bioavailability through control of cleavage of IGFBPs and release of IGF from the ternary complex. Changes in the peripheral IGF system, including low IGF concentrations independently of GH secretion, have been reported in scenarios of malnutrition such as anorexia nervosa (AN). The role of pappalysins and stanniocalcins in the pa...

hrp0095p1-285 | Fat, Metabolism and Obesity | ESPE2022

Nutritional disparities among Brazilian children: study of the temporal trend of the BMI from 2010 to 2021.

Machado Pinto Renata , Carvalho Lima Vitor , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Paulo do Carmo Assunção Marcos , Lima Mutão Stival Nicolle , Oliveira Vaz Tiago

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...

hrp0095p1-111 | Growth and Syndromes | ESPE2022

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Collett- Solberg Paulo , Gomes Nathalia , Scalco Renata , Dantas Naiara , Rezende Raissa , Tiburcio Angelica , Souza Micheline , Freire Bruna , Krepischi Ana , Longui Carlos , Lerario Antonio , Arnhold Ivo , Jorge Alexander , Vasques Gabriela

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

hrp0095p1-474 | Fat, Metabolism and Obesity | ESPE2022

A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) Deficiency and a Systematic Review of Patients with Pathogenic LEP/LEPR Variants

Besci Özge , Nur Fırat Sevde , Özen Samim , Çetinkaya Semra , Akın Leyla , Kör Yılmaz , Pekkolay Zafer , Özalkak Şervan , Özsu Elif , Savaş Erdeve Şenay , Poyrazoğlu Şükran , Berberoğlu Merih , Aydın Murat , Omma Tülay , Akıncı Barış , Demir Korcan , Arioglu Oral Elif

Introduction: Homozygous leptin (LEP) and leptin receptor (LEPR) mutations lead to childhood-onset obesity due to deficient leptin signaling. The specific aims of this work are to explore genotype/phenotype correlations in a national multicenter cohort of 18 subjects with leptin (LEP) and leptin receptor (LEPR) deficiency, report on the long-term clinical follow-up of these rare cases, and systematically review all patients with pathogenic <e...