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: 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 ...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an important cause of primary adrenocortical insufficiency (PAI) in men. It’s characterized by impairment in peroxisomal degradation of very-long-chain-fatty-acids (VLCFA), leading to its accumulation on central nervous system, adrenal cortex and testes.Adrenomyeloneuropathy, the most common phenotype of X-ALD, coexists with PAI in up to 70% cases.Case report: A 28-year-ol...

Introduction: Pituitary aplopexy is rare (0.6 to 12.3%). Sudden expansion of pituitary tumor, from hemorrhage or infarction, may lead to permanent vision loss, paresis or death. We describe two cases of apoplexy as the initial manifestation of pituitary tumor.Case 1: Male, 30 years, healthy, observed in the emergency room (ER) complaining of headache, visual deficit and left ptosis for 3 days. He had left ptosis and bilateral paresis of the IV pair. Magn...

Introduction: A value of thyroglobulin (Tg) undetectable under treatment with levothyroxine (LT) does not exclude residual/metastatic disease; this can be found in 18–35% of patients after recombinant TSH-stimulated Tg (sTg) measurements.Objective: Evaluating the role of recombinant TSH-stimulated thyroglobulin (sTg) measurements in patients with differentiated thyroid carcinoma, treated with suppressive LT doses, with basal Tg (bTG)<1 ng/ml.</p...

Introduction: There are fewer than 20 reported cases involving congenital adrenal hyperplasia (CAH) and myelolipoma. This is a rare benign tumor, often located on the adrenal, consisting of mature adipose and hematopoietic tissues. Its origin is unclear; the most accepted theory is the occurrence of blood capillaries reticuloendothelial cells metaplasia, in response to infection, stress or necrosis. In a small number of cases ACTH hypersecretion coexists.<p class="abstext"...

Introduction: Glycated hemoglobin A1c (A1C) is used for diagnosis and monitoring diabetic patients. The precision of A1C assay methods is affected by the presence of hemoglobin variants. About 7% of world population is asymptomatic carrier of these variants.Case report: PCIMR, woman, 42 years old, caucasian, followed in consultation for obesity, primary hypothyroidism and bipolar disorder. Had family history of obesity and sudden death of her father at 5...