Endocrine Abstracts

The paired-like homeodomain transcriptional repressor HESX1 is implicated in forebrain and pituitary embryogenesis. A homozygous mutation (R160C) was identified in two siblings with septo-optic dysplasia (SOD), with consequent loss of DNA-binding. We have now identified a second homozygous mutation (I26T) within the highly conserved engrailed homology domain (eh-1) of HESX1 that is crucial for the repressor function of HESX1. We aimed to investigate the functional consequences...

Background: Fungal infections are a rare cause of primary adrenal insufficiency, raising difficulties in the diagnostic and therapeutic approaches.Case report: A 56 years old diabetic male, who lived in Guinea in 1968, was referred to our inpatients clinic because of a 7,7x3 cm adrenal incidentaloma. He presented with hyperpigmentation, postural symptoms, weakness, fatigue, anorexia and weight loss.The rapid ACTH stimulation test h...

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...

Introduction: Diabetes is a major risk factor for chronic kidney disease (CKD). Previous studies have shown contradictory results regarding the effect of prediabetes in the development of CKD.Methods: We performed a secondary analysis of the SPRINT trial (Systolic Blood Pressure Intervention Trial) involving 9361 patients without diabetes and with an increased cardiovascular risk (clinical or subclinical cardiovascular disease, estimated glomerular filtr...

Introduction: Scientific progress allowed an evolution on the therapeutic of diabetes mellitus. Continuous subcutaneous insulin infusion therapy (CSII) is one good example, but, beside patients motivation little is known about other psychological factors of success in this therapeutic and how they contribute to quality of life (QoL).Objectives: Determining some psychopathological predictors of CSII satisfaction and QoL improvement in patients on CSII the...

Introduction: The use of Continuous Subcutaneous Insulin Infusion (CSII) is expected to improve glycemic control and to reduce hypoglycemia events. However, long-term beneficial results in glucose control are not always observed. We evaluated long-time glucose control and severe hypoglycemias in type 1 diabetic patients using CSII, without continuous glucose monitoring.Patients and methods: This was a retrospective study of adult type 1 diabetic patients...

Somatotropin is essential not only for linear growth but also for important metabolic functions. Its deficiency is usually the first and most common endocrinopathy induced by cancer disease and its treatments, mainly cranial irradiation. Although somatotropin replacement therapy is safe and effective in promoting a better linear growth, studies of final height in childhood cancer survivors treated with somatotropin are limited. This study was performed to examine growth outcom...

IntroductionThe most cost-effective, minimally invasive and accurate tool to discriminate benign from malignant thyroid nodules is a fine-needle aspiration biopsy (FNAB). However, 2%–24% of FNABs provide non-diagnostic results, which are a clinical challenge, particularly when this result is recurrent.AimTo determine the predictive factors for recurrent non-diagnostic FNAB in thyroid nodules.<p class...

IntroductionRecent published studies suggest that the anatomical location of the thyroid nodule may be associated with different risks of malignancy. However, the results are still sparce and little consensual.AimTo evaluate the frequency of nodules on different locations of the thyroid gland and to determine whether their location correlates with different malignancy risks.Methods<...

BackgroundGraves’ Disease (GD) is characterized by production of stimulating autoantibodies to thyrotropin receptor resulting in hyperthyroidism. Hyperthyroidism is associated with insulin resistance, hyperglycemia and ketosis. Our aim was to evaluate if single nucleotide polymorphism (SNP) in pro-inflammatory cytokines contributes to dysglycemia in GD.MethodsWe evaluated 98 patients with Graves’ di...