Endocrine Abstracts

Background: Pendred syndrome (PS) is an autosomal recessive disorder characterized by defective organification of iodine, goiter and deafness. It is caused by mutations in pendrin gene (SLC26A4), a transporter of chloride/iodide that mediates the efflux of iodine from thyroid follicular cells to the follicular lumen.Clinical case: Case-index: MJFS, female, refered to consultation at 35 years for enlarged neck. Personal history: congenital deafness, thyro...

Introduction: Thymic hyperplasia has been described after hypercortisolism resolution. The natural history remains poorly defined: emergence ≧1 month after hypercortisolism resolution, variable duration, usually spontaneous resolution/benign course.Case Report: ♂, 24, referred in 2000 for secondary hypothyroidism: TSH: 0.25 μUI/ml (0.25–5); FT4: 5.55 pmol/l (9–20). Clinical evaluation: insomnia, nocturnal sweating, facial eryt...

Introduction: Acromegaly is a rare disease with a high morbidity and mortality rate.Our aim was to characterise the population with acromegaly that is currently under supervision at our Department.Materials and methods: We included 104 patients with acromegaly (mean age at the diagnosis 44.0±13.0; with 71.2% females).The referred population was analysed on what concerns disease’s duration, clinical ...

Next Generation Sequencing (NGS) is becoming widely used for genetic diagnosis. While its capacity for detection of human genetic variations (GV) is outstanding, drawbacks is the identification of numerous GV of which functional significance cannot be predicted in silico by computer programs (variants of uncertain significance, VUS). Currently, only sensitive (but also expensive and time-demanding) in vitro cell assays, can trustfully ascertain pathogenicity ...

Introduction: Primary hyperparathyroidism is the most common cause for hypercalcemia. Familial benign hypocalciuric hypercalcemia (FBHH) is an unusual autosomal dominant disease. The mutation in the calcium sensing receptor (CaSR) determines a shift to the right in the calcemia set-point that inhibits PTH secretion. Generally asymptomatic, these patients present with mild hypercalcemia and hypophosphatemia, normal or slightly increased PTH levels and hypocalciuria. Daily calci...

Objective and aims: This study was designed to investigate the clinical characteristics of a representative group of type 1 diabetic (T1D) population in Castilla La Mancha, a region in central Spain. The aim of this report is to evaluate the relationship between the educational level and cardiometabolic risk in adult patients with T1D.Patients and methods: This is an observational, cross-sectional, prospective and multicentre study of 1465 patients who r...

There is a clear relationship between degree of obesity and abdominal obesity with the development of cardiovascular disease.Objective: To assess body mass index (BMI) and waist circumference (WC) as predictors of cardiovascular risk (CVR) in type 2 diabetes mellitus (T2DM) patients.Material and Methods: Cross-sectional study in 452 consecutive out-patients with T2DM who visited our clinic in Madrid, Spain for a routine follow-up. ...

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...

Background: Therapy with levothyroxine (L-T4) is essential in hypothyroidism treatment. The marked elevation of thyrotropin (TSH) in patients treated with appropriate doses of L-T4 is rare and can result from malabsorption, drug interaction or poor adherence. The non-adherence, omitted by the patient, is called pseudo malabsorption.Clinical report: ACCS, female, 30 years old, hospitalized for persistent...

Two adipokines highly expressed in fat mass, adiponectin with antiinflammatory and antiatherogenic properties, and visfatin with an insulin-mimetic effect, are potential contributors to bone metabolism. In acromegaly data on adiponectin are contradictory and there are no data on visfatin.Objectives: To evaluate adiponectin and visfatin in acromegaly, compared to control subjects and to analyze their relationship with body composition and bone mineral mar...