Endocrine Abstracts

AKT serine-threonine kinases are critical mediators of both growth and metabolic actions of insulin. AKT2 is believed to exert predominantly metabolic effects, while AKT1 has been more strongly implicated in growth. We have recently reported that the de novo AKT2 p.Glu17Lys mutation produces a sporadic syndrome of severe persistent hypoinsulinaemic hypoglycaemia associated with left-sided hemihypertrophy. Glucose requirements in affected patients are far lower than seen in hyp...

Introduction: Langerhans’ Cell Histiocytosis (LCH) is a rare disease, more common in children than in adults, resulting from aberrant proliferation of Langerhans’ cells, belonging to the monocyte–macrophage system.Case history: We present the case report of a 40-year-old man with a 16-year history of polyuria, polydipsia and tiredness. For 10 years he had perianal, groin, abdomen and scalp scarring, hyperpigementation along with follicles ...

Introduction: Primary hyperparathyroidism (PHP) results from an excessive secretion of parathyroid hormone (PTH), typically leading to hypercalcaemia. This disorder is more common than previously expected, since it is frequently diagnosed in asymptomatic patients.Objectives: To characterize a group of patients with PHP, in what concerns to: age, clinical presentation, biochemical and imaging evaluation, treatment and evolution.Pati...

Introduction: An insulin therapy protocol (ITP) was created during 2007 in our hospital by endocrinologists, internal physicians and nurses. The aim was to establish the basal-bolus therapy as the treatment for the non-critical diabetic in-patients in order to ease the management and lead a better glycemic control of these patients. A poster was presented to all the hospital departments in several meetings during 2008. This poster showed the way to calculate the initial insuli...

Objectives: To valuate the insulin treatment intensification efficacy (from three premixed insulin doses to basal-bolus therapy) in type 1 and 2 diabetic patients wrongly controlled.Material and methods: The 61 patients were included. 29 (47.5%) type 1 diabetes mellitus (DM) and 32 (52.5%) type 2 DM, attended in the Day Diabetes Hospital (DDH) during 2008. 50.8% were females and 49.2% were males. Mean age was 34.2±14.4 in type1 DM and 63.6±8.6 ...

Genetic defects in PCNT, encoding the centrosomal protein pericentrin, cause a rare syndrome of primordial dwarfism, skeletal dysplasia and facial dysmorphism, known as Majewski Osteodysplastic Primordial Dwarfism Type II (MOPDII). We now report that 11 out of 15 patients with PCNT defects had clinical and/or biochemical evidence of severe insulin resistance (IR), many also with severe dyslipidaemia; the remaining four were under 4 years-old. The metabolic profil...

Introduction: Adrenal hematomas are very rare entities. They occur often associated with: trauma, anticoagulation, coagulopathy, septicemia, pregnancy complications or tumors. When none of these predisposing factors is present, diagnosis and treatment can become a real challenge.Case report: A 19-years-old woman presented with complaints of asteny, loss of appetite, loss of 10 kg in a month, and pain in right lumbar and abdominal regions. No other compla...

Pheochromocytomas are rare, catecholamine-secreting, adrenal neoplasms. In about 25% of cases they arise in patients with germline mutations. Malignancy occurs in about 10%.We retrospectively analysed the records of patients with histological diagnosis of pheochromocytoma submitted to adrenal surgery between 1987–2008 and followed in the Endocrinology department.Thirteen patients were included. We evaluated age on diagnosis; c...

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but norm...

Pheocromocytoma is a catecholamine-secreting tumor that arises from chromaffin cells of the adrenal medulla. In general, they are unilateral and the treatment of choise is complete surgical resection. Surgery and other medical procedures such as chemotherapy or radiotherapy may result in massive catecholamine release that can be fatal. Some form of preoperative pharmacologic preparation is indicated for all patients to control blood pressure, arrhytmia and promote intravascula...