Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

Background: Surgery is the main therapeutic option for advanced endometrial cancer; however, when disease relapses, chemotherapy is the only option. Chemoresistance is a very common phenomenon in these tumors. We previously demonstrated that GH protects breast cancer cells towards the cytotoxic effects of doxorubicin, inducing chemoresistance. Recent evidences show that endometrial cancer cells secrete GH, stimulating their own growth in an autocrine fashion.<p class="abst...

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...

Background: Bronchial carcinoids (BC) are still orphan of medical therapy. We previously demonstrated that the typical BC human cell line NCI-H727 is sensitive to Everolimus, in terms of cell viability reduction, while the atypical human BC cell line NCI-H720 is not. However, the mechanisms underlying this phenomenon have not been fully clarified.Aim: The aim of our study is to investigate the mechanisms of resistance to mTOR inhibitors in BC cells.<...

Introduction: Steroid cell tumors are rare ovarian sex cord-stromal tumors with malignant potential comprising <0.1% of all ovarian tumors. A subtype called not otherwise specified (NOS) accounts for approximately one-half of all ovarian steroid cell tumors. The average age of presentation is 43 years, with androgenic clinical features in 56–77% of cases.Case report: A 21-year-old female, on liver transplantation waiting list due to Niemann&#150...

Introduction: Several studies point towards lower testosterone levels (TL) in patients with obesity and/or insulin resistance (IR).Aim: To analyze the influence of anthropometric parameters and IR on TL in obese men and weight-dependent changes after a short-term weight loss program.Methods: Data were collected from a group of male patients, aged 18 to 65, when they attended a first obesity appointment and at reassessment 6 months ...

Purpose: The pathogenesis of idiopathic GH deficiency (GHD) in children, including possible cerebral metabolic alterations, remains unclear. The aim of the study was to evaluate the metabolic changes within the normal appearing brain in children with GHD using MR spectroscopy (MRS) and to correlate MRS measurements with hormonal concentrations.Materials and methods: 71 children with GHD (mean age 6.9 years) and 11 healthy controls (mean age 8.4 years) we...

Introduction: Although long-term complications such as nephrocalcinosis and renal insufficiency are well-known in chronic hypoparathyroidism (HPT), standardized investigations of their prevalence and causes are still lacking.Objective: To systematically investigate the prevalence of renal calcifications and dysfunction and their predictors in a well-characterized cohort of patients with HPT.Methods: Cross-sectional assessment of co...

Introduction: Reduction of quality of life in patients with chronic hypoparathyroidism (HPT) has been reported by several studies. Additionally, self-report data point to a higher prevalence of anxiety disorders in HPT compared to patients after thyroidectomy.Objectives: To characterize psychiatric diseases in a systematically reviewed cohort of patients with chronic HPT.Methods: We systematically assessed psychiatric comorbidities...