Endocrine Abstracts

-Diana Borges Duarte and Francisca Puga are joint first authors and contributed equallyBackground: As therapeutic options improve for Cushing’s disease (CD), most patients can now achieve control or cure of hypercortisolism. However, persistent complaints are often reported. Evaluation of health-related quality of life (HR-QoL) can highlight impairments beyond the stricter clinical aspects. Our aim was to evaluate HR-QoL with a specific focus on men...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Introduction: Clinical trial data demonstrate improved glycemic control in individuals with type 1 diabetes (T1D),especially, reduction of time in hypoglycaemia with flash glucose monitoring (FGM);however real-life conditions can modify this scenario.Aim: To examine real world use and glycemic control following a standardized initiation process of FGM.Methods: Individuals aged 18 years or older with T1D were prospectively recruited...

Introduction Immune reconstitution therapies (IRT), which include antibody-based cell-depleting therapies targeting CD52+ (alemtuzumab) or CD20+ (rituximab, ocrelizumab) leukocytes, are approved for the treatment of multiple sclerosis. Thyroid autoimmunity is a common adverse effect of alemtuzumab treatment, Graves' disease being the most prevalent manifestation. To date, thyroid autoimmunity events have not been reported with CD20 targeting monoclonal a...

IntroductionSimultaneous pancreas-kidney transplantation (PKT) has a beneficial effect on the evolution of chronic complications in type 1 diabetic (T1D) patients with terminal chronic kidney disease (CKD). However, the CKD-mineral and bone disorder (CKD-MBD) remains a frequent complication. There are a few studies addressing the long-term evolution of bone mineral density (BMD) in these patients.AimTo charac...

Introduction: Gestational diabetes mellitus (GDM) is associated with important neonatal risks and a higher incidence of large-for-gestational-age (LGA) newborns and fetal macrosomia. The aim of our work was to define a third-trimester HbA1c cut-off point for increased risk of fetal morbidity, macrosomia and LGA newborns.Methodology: Observational retrospective study of all singleton pregnant women with GDM, followed at our Diabetes and Pregnancy Clinic b...

Introduction and aim: Type 1 diabetes mellitus (T1DM) presents as a challenge for both health care providers and patients looking to avoid chronic complications and early mortality. Clinical features of patients with long duration T1DM are still poorly studied and debated. The aim of our work was to describe the clinical features of subjects with long duration T1DM.Methods: Cross-sectional study of patients with T1DM with more than 40 years of evolution ...

Introduction: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the maturity-onset diabetes of the young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated.Aim: o evaluate the clinical and molecular characteristics of patients with MODY.Methodology: This single-center retrospective cohort study enrolled patients with positive g...

Introduction: Simultaneous pancreas-kidney transplantation remains the best treatment option in type 1 diabetic patients with chronic kidney failure, providing a euglycemic state associated with an improvement on diabetic chronic complications. However, there are only a few studies addressing the potential ischemic deterioration of peripheral arterial disease, due to blood diverting from the iliac artery to the kidney graft.Aim: Evaluate diabetic foot le...

IntroductionPheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia(paragangliomas).AimTo characterise demographic, clinical, and biochemical/genetic features of a cohort of patients with pheochromocytoma and paraganglioma (PPGL), assessing for differences between two-time periods over a three-decad...