Endocrine Abstracts

IntroductionNeurofibromatosis type 1 (NF-1) is a relatively frequent syndrome, with an estimated incidence of 1/3000 per year. Patients with NF-1 are at an approximately fourfold higher risk of developing tumors than the general population, most frequently gastrointestinal stromal tumors, central nervous system tumors and endocrine tumors. Pheochromocytoma may occur in about 1% of these patients.Case report: We report a 56-year-old...

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: The incidence of previously unrecognized lesions within the pituitary has been studied by MRI. The data suggest that up to 10% of people have clinically unsuspected pituitary tumors, the majority being<10 mm. Currently, little information is available about the prevalence of incidentally-discovered sellar masses.Objective: To perform a clinical audit on pituitary incidentalomas in order to establish an appropriate clinical approach to t...

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 ...

Introduction: The differential diagnosis of nonpituitary sellar masses is broad. Clinical presentation may be similar to that of pituitary adenomas. Sometimes certain findings are particular to some lesions and may help in their differentiation. Correct preoperative diagnosis is important to better guide therapeutic management. The aim of this work was to analyze patients with parasellar lesions (craniopharyngiomas excluded), attended in the Department of Endocrinology of our ...

Current guidelines recommend measurement of rhTSH-stimulated Tg, with neck ultrasound 6–12 months after the initial therapy for DTC (Total thyroidectomy plus 100 mCiI131 ablation of the thyroid bed). Uncertainty persists regarding whether the subsequent follow up should be based on measurement of basal serum Tg or whether rhTSH-stimulated Tg should be performed and at what frequency. The aim of our study was to evaluate the utility of repeated rhTSH-stimulated Tg.<p c...

Increasing incidence of papillary thyroid microcarcinoma (PTMC) is due to accurate histological study of surgical specimens (incidental, INC) or to improved preoperative diagnostic techniques (preoperatively diagnosed, PD). We evaluate the differences between both groups of PTMC from 2000 to 2009.We reviewed data of patients diagnosed of PTMC (<10 mm) during the last decade with complete follow-up since surgery. Demographic data, tumour size, histolo...

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...

Introduction: Insulinomas are the most common form of functioning pancreatic neuroendocrine tumors (NET) with an estimated incidence of 1–3/million per year. Less than 10% are malignant and rarely with distant metastases, carrying a poor prognosis.Case report: We report a case of a 73-years-old woman attended at our ER for recurrent syncope, with irrelevant medical history. Several radiology exams were preformed, revealing numerous liver metastases ...