Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy with high recurrence and poor prognosis. Lactate dehydrogenase (LDH) is an enzyme of the glycolytic pathway that is associated with tumour progression in several cancers. To date, evidence on the prognostic value of LDH in ACC is limited.Aims: To assess the impact of LDH in disease-free survival (DFS) in operated ACC.Materials and methods: Retrospective cohort study ...

Background: Bardet-Biedl Syndrome (BBS) is a rare genetic disease in which impaired melanocortin-4 receptor (MC4R) signaling leads to hyperphagia and obesity. In an index Phase 3 trial, broad clinical benefit was observed in patients with BBS based on improvement or stabilization in ≥1 measure of weight, hunger, or quality of life with 1 year of treatment with the MC4R agonist setmelanotide. Reported here are long-term extension (LTE) weight outcomes after 3 years of set...

Introduction: Familial chylomicronemia syndrome (FCS) is a rare inherited disorder of lipoprotein metabolism leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. Mutations in the lipoprotein lipase (LPL) gene account for the majority of cases of monogenic chylomicronemia.Methods: We report the cases of two white males with a novel homozygous mutation in position 332 of the LPL gene.Res...

Introduction: Grave’s disease is a rare disease in children. Treatment options are the same as in adults but remission rate with antithyroid drugs (ATD) appears to be lower in children and more prolonged courses of ATD are recommended. We aimed to evaluate the outcome of ATD treatment and to identify factors associated with remission.Methods: Retrospective study of 36 pediatric patients diagnosed with Grave’s disease at the Pediatric Department...

Intracranial tumors (IT) comprise a heterogenous group of neoplasias (e.g., pituitary/brain tumors and craniopharyngiomas), characterized by difficult diagnosis based on MRI, challenging prognostic predictors and lack of effective therapeutic strategies. In addition, these tumors are usually associated with neurological disorders and severe comorbidities (e.g., those associated with Cushing syndrome, Acromegaly, etc.), worsening the quality life of patients. In this context, s...

Methods: Descriptive retrospective study of the clinical outcomes and RNA expression in aggressive pituitary tumors treated with temozolomide. RNA expression was studied in tumor samples normalized to housekeeping genes including GH, POMC, PRL, αsub, FSH, LH, TSH, sst1, sst2, sst3, sst5, sst5b, sst5c, DR1, DR2T, DR2L, DR4, DR5, Ghrelin, In1-Ghrelin, GOAT, GHRR1b, AVPR1b, GHRH-R, GnRH-R, Ki-67, PTTG1, CRHR1.Results: Ten patients were treated. 30% (3)...

Dysregulation of the splicing machinery is emerging as a novel cancer hallmark due to its association with multiple dysfunctions in tumor cells. An inappropriate function of the components of this machinery (spliceosome) could be primarily linked with the generation of tumor-associated aberrant splicing variants. In line with this, we have previously reported that overexpression of aberrantly spliced variants of somatostatin receptor 5 (sst5TMD4) and ghrelin (In1-ghrelin) is d...

: Prostate cancer (PCa) is the most common cancer among men in developed countries. Unfortunately, the heterogeneity of this malignancy hinders the finding of new biomarkers and therapeutic tools. A potential factor contributing to PCa is alternative splicing, which can generate the appearance of oncogenic variants involved in PCa aggressiveness. Thus, we hypothesized that the alteration of the splicing machinery (spliceosome components and splicing factors (SFs)) could be ass...

Pituitary adenomas (PA) comprise a commonly underestimated pathology in terms of incidence and associated morbi-mortality. Although somatostatin analogs and dopamine antagonists constitute the main medical treatments for PAs, an appreciable subset of patients are resistant or poorly responsive to these drugs and hence is crucial the search for new therapies. Biguanides such as metformin (MF; commonly used to treat type-2 diabetes), phenformin (PF) and buformin (BF) have been s...

Objectives: The transition from the paediatric age to the adult is a particularly vulnerable period in patients with metabolic congenital diseases (mcd). In andalusia two adults’ units exist (seville and malaga) for the follow-up of these patients. Our aim in this study was to evaluate the current series of attended patients.Material and methods: We evaluated all patients transferred to the adult units since 2008. The clinical records were analyzed ...