ESPE Abstracts

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

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...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

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...

Background: Congenital hyperinsulinism (CHI) is a rare condition that becomes the most frequent cause of severe and persistent hypoglycemia in infants and young children. It may lead to debilitating morbidity and mortality if being diagnosed lately. Congenital hyperinsulinism can be caused by monogenic or syndromic disorders. The prevalence of CHI in Indonesia is still unknown. However, the increasing number of cases referred to the tertiary hospital recently ...

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Background: Aggrecan (ACAN) deficiency is a cause of autosomal dominant short stature with bone age advancement and premature growth cessation. There is limited data on the use of growth hormone (GH) treatment and aromatase inhibitor (AI) in this condition and their effect on adult height.Objective: To describe the improvement in predicted adult height (PAH), height SDS, and near adult height (NAH) in a 14-year-old boy w...