hrp0098p2-337 | Late Breaking | ESPE2024

Abetalipoproteinemia: a case report

Fernando Arrais Ricardo , A. C. M de Medeiros Iluska , M. C. Maia Jussara , Chrystian V. de Azevedo Jenner , Cássia Barrionuevo Jaim e Viviane , Barboza Beltrão Cristine , B. M. M. de Almeida Yngra , Fernandes da Cunha Camila , Madeira de Almeida Thalita , Adonícia Gurgel Martins Kerlândia , Digilio Vieira da Silva Leopoldo

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

hrp0092s9.3 | Heterogeneity of Paediatric Diabetes | ESPE2019

Obesity Distorting Childhood Diabetes: Is it Type 2, Type 1, or MODY? A Pathophysiological Perspective

Arslanian Silva

There are modifiable and unmodifiable risk factors for youth type 2 diabetes (T2DM). Unmodifiable risk factors include genetics/epigenetics, minority race/ethnicity, and puberty. The major modifiable risk factors for youth T2DM are obesity and lifestyle habits of excess nutritional intake and decreased energy expenditure. Thus, in making a clinical diagnosis of T2DM, the major diagnostic criterion, at least in North America and Europe, is overweight/obesity. However, with the ...

hrp0084s6.3 | Type 2 Diabetes & Obesity | ESPE2015

From Obesity to Type 2 Diabetes

Arslanian Silva

With the ever escalating trajectory of childhood obesity, rates of prediabetes and type 2 diabetes (T2DM) are on the incline. Impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT) constitute a state of prediabetes with high risk for the development of T2DM. Among U.S. adolescents 12–19 years of age, NHANES 2005–2006, the prevalence of IFG, IGT and prediabetes was 13.1, 3.4 and 16.1%, respectively. Overweight adolescents had a 2.6-fold higher rate tha...

hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

hrp0097p1-399 | Adrenals and HPA Axis | ESPE2023

Transcriptome profiling evaluation of pediatric adrenocortical tumors (pACT) reveals a favorable-prognosis transcription signature and potential therapeutic targets.

Carolina Bueno Ana , Milton P da Silva Jr Rui , F Stecchini Mônica , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

hrp0082p2-d2-606 | Thyroid (1) | ESPE2014

Genetic Studies in Congenital Hypothyroidism: a Regional Study

Hashemipour Mahin , Hopvsepian Silva

Background: Congenital hypothyroidism (CH) is considered as the most common endocrine disorder in neonates. CH may be caused by defects in the thyroid gland (dysgenesis) or in one of the stages in the synthesis of thyroid hormones (dyshormonogenesis). Early diagnosis and treatment of neonates with CH is crucial for their neurological development and preventing its related mental retardation. CH screening program have made the opportunity to achieve the mentioned goals. CH scre...

hrp0092p3-14 | Adrenals and HPA Axis | ESPE2019

One Case Report of Uighur Girl with Cushing Syndrome

li wenjing , chen da , xiawudong adaleti

Objective: Through the diagnosis and treatment of Uighur girl with adrenocortical adenoma, who was complain of short stature, to prompt pediatric endocrinologists pay attention to hypercortisolism in the diagnosis and treatment of children with short stature.Methods: With the case report of hypercortisolism in a Uighur child, to introduce the diagnosis and treatment of adrenocortical adenoma, presenting the clinical char...

hrp0086p2-p881 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Structure of Genetically Determined Types of Short Stature in Uzbekistan According to Retrospective Analysis

Ibragimova N.Sh. , Dalimova D.A. , Mirkhaidarova M.

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...

hrp0084p3-596 | Adrenals | ESPE2015

Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

Da Costa Alexandra Rodrigues , Glew Simon , Fonseka Geetha , Ismail Dunia

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...