Endocrine Abstracts

Introduction: In most cases, adrenal incidentalomas are non-functioning adrenocortical adenomas, but may also represent conditions in which therapeutic intervention is essential, such as pheochromocytomas, even with low index of suspicion.Case reports: Case report 1. Fifty-three-year-old male with history of arterial hypertension (HT), type 2 diabetes Mellitus and myocardial infarction, with a right adrenal incidentaloma found in abdomi...

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: Insulin autoimmune syndrome or Hirata disease is a rare cause of hypoglycemia without prior insulin exposure. Approximately 400 cases were reported, mostly in Japan. It’s associated with other autoimmune diseases or exposure to sulfhydryl-containing drugs.Case report: A 56-year-old Caucasian woman presented with a 20-month history of hypoglycemia ameliorated by sugar intake. She had a past history of autoimmune thyroiditis, asthma and ...

Triple A syndrome (AAAS) is a rare, incurable, homozygous disorder, characterised by tissue-specific degeneration resulting in adrenal failure and neurodisability. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. The inte...

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in ...

Introduction: In singleton pregnancies, gestational diabetes mellitus (GDM) results in an increased risk for maternal and neonatal complications. In twin pregnancies, however, the effect of GDM on maternal and neonatal complications appears to be different in comparison to singletons. The few studies that investigated the consequences of GDM in twin pregnancies are small and present conficting evidence, with some finding no difference in perinatal outcomes between GDM and non-...

Introduction: Activating and inactivating mutations of the GNAS gene (encoding the Gsα protein) cause McCune–Albright Syndrome and Albright’s Hereditary Osteodystrophy, respectively. In both, the bone and the endocrine system are often affected. In McCune–Albright Syndrome the most common endocrine manifestation is precocious puberty, but thyroid lesions and hormonal overproduction are also described. In Albright’s Hereditary Osteodystrophy there m...

Triorganotins, such as tributyltin (TBT), are environmental contaminants commonly found in antifouling paints that are used on the ships and other vessels. Unfortunately, these chemical are also suspected to cause endocrine-disrupting effects in mammals, due in part to their possible transfer through marine food chains and to the consumption of contaminated seafood. The importance of triorganotins as environmental endocrine disruptors in different animal models is well known; ...

Introduction: Craniopharyngiomas are intracranial tumors that develop from Rathke’s pouch rests of epithelium. They have a bimodal age distribution, with peak incidence at childhood and in the adult/elderly, although in our series we have more patients in a middle peak. Usually they are benign but responsible for significant morbidity, particularly when located near critical structures such as optic chiasm, pituitary gland and hypothalamus, and thus might cause visual, ne...