Endocrine Abstracts

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...

Introduction: Pheochromocytoma is one of the major secondary causes of hypertension. The classic triad of pheochromocytoma symptoms of headache, sweating and tachycardia is not present in a high percentage of patients and is sometimes diagnosed as incidentaloma or atypical presentations.Case report: The authors present a 56-year-old man, with no known diseases, referred to Endocrinology evaluation by incidentaloma of the right adrenal gland, from the Pne...

Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia in the outpatient setting, and a single parathyroid adenoma is usually the culprit. Clinical presentation is commonly dictated by hypercalcemia. Symptoms can range from mild non-specific malaise and gastrointestinal disturbances, through bone disease, kidney stones, cardiovascular and neuromuscular dysfunction to, ultimately, coma and death. However, the vast majority of patien...

Introduction: Secondary causes of diabetes refer to a category in which diabetes is associated with other diseases. They are thought to constitute less than 2% of the total cases of diabetes.Case report: A 56 year-old caucasian man, with no relevant medical history, presented to the Emergency Department with fatigue, polyuria, polydipsia, polyphagia and involuntary weight loss (6 kg in two weeks). He was hemodynamically stable and exhibited a glycaemia o...

Introduction: In chronic diseases a good psychological and behavioral adaptation is essential. Concerning diabetes the Insulin Delivery System (IDS) adopted tend to be an important factor of adaptation, global satisfaction and, above all, quality of life (QoL).Objectives: To analyze the QoL and IDS satisfaction and its relationship with psychopathological symptomatology in patients on continuous subcutaneous insulin infusion (CSII) therapy.<p class="...

Introduction: Combined central diabetes insipidus (DI) and cerebral salt wasting syndrome (CSW) is a rare clinical finding. However, when this happens, mortality is high due to delayed diagnosis and/or inadequate treatment.Case report: 42-year-old man referred to neurosurgery due to a non functional pituitary macroadenoma with bitemporal hemianopsia. He underwent partial ressection of the tumour on July 2nd 2015. On the following day of surgery he presen...

Introduction: In diabetes insipidus (DI) the serum sodium is often in the high normal range, required to provide the ongoing stimulation of thirst to replace the urinary losses. Marked hypernatremia can occur if a central lesion impairs both ADH release and thirst.Case report: A 57-year-old woman presented with dysuria, polyuria and fever. She was medicated with ciprofloxacin, however, she maintained symptoms, accompanied in the next day by nausea, vomit...

Introduction: There is circumstantial evidence supporting a role of growth hormone and insulin-like growth factor 1 in the development and progression of tumors. Endosalpingiosis is characterized by the presence of non-neoplastic fallopion tube-like epithelium in ectopic anatomical locations.Case report: A 45-year-old woman presented with a constant moderate to intense perianal pain limiting basic daily life activities. She also complained about pain at ...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Introduction: Inferior Petrosal Sinus Sampling (IPSS) is the gold standard test to distinguish between Cushing Disease and ectopic ACTH secretion (EAS), mostly when the biochemical tests are discordant and/or there is no lesion in MRI.Aim: To evaluate the results of IPSS in the diagnosis of ACTH-dependent Cushing syndrome.Methods: Retrospective study that analysed IPSS results performed in the last decade in our centre and integrat...