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...

Introduction: Pituitary apoplexy is a potentially life-threatening syndrome due to acute infarction and/or hemorrhage of the pituitary gland. In many cases it is the first form of presentation of a pituitary adenoma. The purpose of the study is to analyze the clinical presentation, diagnosis and treatment of this syndrome.Patients and methods: A retrospective analysis of the patients diagnosed with pituitary tumor apoplexy at Santo Antonio’s Hospita...

Objectives: To evaluate changes in gonadotrophins, total (TT) and free (FT) testosterone, SHBG, insulin and c-peptide levels during weight lost after bariatric surgery.Material and methods: Seven (n=7) patients submitted to bariatric surgery for treatment of severe obesity were followed-up over time. Before surgery mean age was 32,857 (19-56) years old, mean weight was 170,571 kg (± 37,362) and mean BMI was 58,824 kg per m2(± 14,...

Background: The screening of patients and relatives for the presence of inactivating mutations of the MEN 1 gene, established quite accurately those for prospective detection of neoplasms. Active search for pancreatic lesions has increased the detection of neuroendocrine pancreatic tumours (NEPT) at early ages, most asymptomatic and with no signs of malignancy at diagnosis.Case Report: We describe one kindred where five members were identified as carrier...

The association of hyperandrogenism and insulin resistance is common in several syndromes. The proposed mechanism is the stimulation of ovarian theca cells by insulin to produce testosterone. Weight loss, improves insulin resistance, reduces insulin levels and consequently decreases circulating androgens.Material and methods:Ten female subjects with severe obesity and hyperandrogenism were evaluated before and after weight loss at...