Endocrine Abstracts

Introduction: Obesity has been associated with increased androgenicity in women, however there are conflicting data on this subject. Objectives: To determine whether any androgen is independently related to body mass index (BMI), waist-to-hip ratio (WHR) or age. To access if there is an association between elevated plasma androgen levels and the presence of either morbid obesity or metabolic syndrome (MS).Design and Methods: A total of 148 obese women we...

A positive association between thyrotropin (TSH) secretion and body-mass index (BMI) was previously reported. There are many studies concerning thyroid function in obesity, and some of them describe higher TSH levels in obese subjects.Evaluation of the hypothyroidism prevalence in a sample of obese women in their first obesity appointment at Hospital São João.Anthropometric variables and serum levels of TSH, free triiodot...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

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...