Endocrine Abstracts

Introduction: Neonatal diabetes is a rare condition diagnosed within the first months of life. Activating mutation of KCNJ11, the gene encoding the Ki6.2 subunit of the ATP-sensitive potassium channel, is the most common cause of permanent neonatal diabetes, and ~20% of patients have neurological features.Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Inte...

Clinical caseIntroduction: Insulinoma is a rare disorder with an estimated incidence of 1 case per 250 000 people per year.Case report: 37 years old female, with a history of irritable bowel syndrome, dyslipidemia and kidney stones. In December 2010, she developed a headache, dizziness and visual disturbances, predominantly in the evening and amnesia for some of the episodes. Initially interpreted as peripheral vertiginous syndrome, because of recurrence...

Introduction: Radiodine (131I) is widely used in the treatment of patients with thyroid cancer. This therapy is associated with some adverse effects including possible impairment of ovarian function and earlier menopause.Objective: The aim of this study was to evaluate female fertility after treatment with 131I of differentiated thyroid cancer (DTC).Methods: We retrospectively analysed 250 women with DTC treat...

Growth hormone deficiency (GHD) is associated with adverse changes in lipid profile. There are no longitudinal studies of lipid abnormalities in childhood-onset GHD into adulthood. In order to more accurately define the metabolic consequences of GHD in childhood progressing through to adulthood we have examined lipid levels in a group of untreated severely GHD patients with a mutation in the GHRH receptor gene from a rural community in Northeast Brazil.1...

Ectopic ACTH secretion due to malignant tumours is a rare cause of hypercortisolism. Induced metabolic disturbances are often serious and the management of such patients may be difficult. We report the case of a 50-yr-old man who had a sporadic medullary thyroid carcinoma (MTC) removed 2 years ago (Dec/2003). Calcitonin and CEA levels remained high postoperatively and a CT scan revealed liver metastases. In August 2005 he was referred to Endocrinology with symptoms of muscular...