Endocrine Abstracts

Introduction: Thyroid storm, a life-threatening manifestation of hyperthyroidism, presents a complex clinical challenge that demands swift and precise intervention. The heart is one of the most important target organs affected by the thyrotoxic state. Thyrotoxicosis may lead to sinus tachycardia, hypertension, tachycardiomyopathy, atrial fibrillation and heart failure.Case Presentation: A 46-year-old female presented to the emergency department with symp...

Introduction: Cushing Syndrome have long been recognised to predispose patients to infection diseases, a consequence of the immunosuppression induced by corticosteroids. There is a predisposition to viral, bacterial, parasitic and especially fungal diseases. Opportunistic infections, particularly invasive fungal infections, represent a serious complication associated with an increased risk of mortality.Clinical case: We represent a 55 years-old woman, po...

Introduction: MEN1 is a rare autosomal dominant syndrome typically characterized by neoplastic lesions of parathyroid glands, anterior pituitary gland and endocrine pancreas. Several other tumours are associated with this syndrome, including adrenal lesions, but their prevalence and clinical characteristics (endocrine secretion and aggressiveness) are largely unknown.Objective: To determine the prevalence, clinical characteristics and the possible genoty...

The G protein-coupled receptor (GPCR) kinase 2, GRK2, is a ubiquitous serine/threonine protein kinase that is able to phosphorylate and desensitize the active form of several GPCR. Compelling, as yet limited, evidence from in vitro studies have suggested a potential role of GRK2 in mediating desensitization of Gpr54, the canonical receptor for kisspeptins that is abundantly expressed in GnRH neurons. Yet, although kisspeptins have been universally recognized as essent...

Obesity and its comorbidities are reaching epidemic proportions. Maternal obesity is known to predispose the offspring to metabolic disorders, independently of genetic inheritance. This intergenerational transmission has also been suggested for paternal obesity during the pre-conception stage, as it appears to have a negative impact on the metabolic and reproductive health of the offspring, likely via epigenetic changes in spermatozoa. However, whether paternal obesity sensiti...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome with autosomal dominant inheritance. It mainly involves the parathyroid glands (90%), the pancreas (60%) and the pituitary (40%). More than 300 different MEN1 germline mutations were already described.Objective: To characterize families with MEN1 followed at the Department of Endocrinology of the University and Hospital Center of Coimbra, Portugal, from 1990 until 2015.<p cl...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases described in the literature). The clinical, laboratory and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We ...

Introduction: Definitive diagnosis of lymphocytic hypophisitis (LH) lacks a pathological analysis. The detection of pituitary antibodies (PAB) with the current methods presents variable results and its clinical utility is therefore limited. Recently, new methods were released for the interpretation of indirect immunofluorescence (IIF), which can increase the specificity for detection of PAB.Methods: We evaluated four patients followed in endocrinology co...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases in the literature). The clinical, laboratory, and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We report th...

Introduction: Adrenocortical carcinoma is a rare endocrine disease characterized by an aggressive behaviour with a poor prognosis. Clinical experience, even with a little number of patients, has enhanced knowledge about this malignancy, in most cases challenging.Objective: Characterization of patients with adrenocortical carcinoma followed at the endocrine department of a hospital centre, between 1991 and 2019.Methods: Retrospectiv...