Endocrine Abstracts

Introduction: Glucokinase-MODY (Maturity onset diabetes of the young) results from heterozygous mutations in the GCK gene, impairing its enzymatic activity. GCK acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We describe two cases of MODY due to a GCK gene mutation not described until now.Clinical Case: A 63-year-old male is followed in our hospital for 30 years due to diabetes mellitus (DM). He was diagnose...

Introduction: Caloric restriction combined with overtraining can result in a total body energy deficit, which in turn is associated with multiple deleterious endocrine consequences, including hypogonadotropic hypogonadism. This can be a reversible cause of primary infertility, but its occurrence in men is still poorly recognized.Case Report: We report a case of a 39-year-old male evaluated in an urology appointment for primary infertility. He had a histo...

Background: Hypercalcaemia due to primary hyperparathyroidism is a rare cause of acute pancreatitis, with a reported prevalence of 1.5–8%.Clinical case: A 25-year-old male patient was referred to the Endocrinology outpatient clinic for hypercalcemia diagnosed in the context of acute pancreatitis. He had medical and surgical pathological antecedents of: clavicle fracture after car accident, cholecystectomy and appendectomy, gastroesophageal reflux di...

Introduction: Multiple endocrine neoplasia (MEN) syndromes are rare entities characterized by the occurrence of tumors involving two or more endocrine glands in a single patient. These syndromes are classified as type 1 or 2 according to specific phenotypic characteristics. MEN2 encompasses three different subtypes: MEN2A, MEN2B and familial medullary thyroid carcinoma. More recently a syndrome related to mutations in the CDKN1B gene has been described – the syndrome of m...

Introduction: Cushing’s Syndrome secondary to inhaled or topic corticosteroids is very rare, although there are reports of a link to cytochrome inhibitors. Ritonavir, a protease inhibitor used for treatment in human immunodeficiency virus (HIV) infection, is a potent inhibitor of cytochrome P450 3A4.The case: A 41 years old man - with personal history of asthma, HIV infection diagnosed in 2002 and hepatitis C infection since 1999 – was sent to ...

Introduction: 131I-iodide therapy (RIT) is an important treatment modality for patients with differentiated thyroid carcinoma (DTC). However, despite the overall excellent outcome, some DTC patients with poor prognosis may require multiple doses of radioactive iodine.Aim: The purpose of our study was to evaluate the efficacy of cumulative doses (CDs) of RIT in metastatic DTC patients.Material and methods: A retrospective study was ...

Nonadherence to levothyroxine therapy is one cause of persistent hypothyroidism. To distinguish nonadherence from malabsorption, a levothyroxine absorption test (LAT) is sometimes required. The authors report a case of a 60-year-old female patient suffering from hypothyroidism resistant to oral levothyroxine (LT4) substitution after radioiodine therapy for Graves’ disease. Despite the continuous increases of LT4, over 10 years, to a maximum of 1 mg/d...

Introduction: Thionamides are important drugs in the treatment of hyperthyroidism. Despite that, they can be associated with rare but serious complications, which require drug discontinuation.Case report: Sixty-five-year-old woman with Graves’ disease, treated in 2002 with methimazole and in remission until 2012. Recurrence of Graves’ disease was diagnosed in March 2012 and she was started on propylthiouracil (PTU) 150 mg per day. She presented...

Introduction: Patients with psychotic or depressive disorders have an increased risk of developing metabolic syndrome, not only because of their unhealthy lifestyle (sedentary habits, inadequate diet and smoking) but also because of the negative impact of antipsychotic agents (specially clozapine and olanzapine) on several metabolic features. These include overweight/obesity, dyslipidemia, development of new-onset type 2 diabetes, worsening of pre-existing diabetes and diabeti...

Introduction: Identification of molecular markers with a reliable prognostic value may greatly improve the management of patients with papillary thyroid carcinoma (PTC). Rac1b, a hyperactive splice variant of the small GTPase Rac1, was found to be overexpressed in colorectal, breast and lung cancer. It has been shown to sustain tumor cell survival in colorectal cancer and was reported to have a key role in the malignant progression of breast and lung tumors. The Rac1b tumorige...