Endocrine Abstracts

Introduction: The adrenocortical carcinoma (ACC) is a primary malignant tumor developed in depends of the adrenal cortex, defined by a Weiss score ≥3. Despite the therapeutic progress, its prognosis is still severe.Patients and methods: This retrospective descriptive study evaluated 4 patients with adrenal corticosteroid followed in the endocrinology department of Sfax - Tunisia between 2010 and 2018.Results: There were 3 wom...

Introduction: The otorhinolaryngologist can be confronted to multiple surprises after a thyroid surgeryCase description: We report the case of a 48 year-old woman admitted with post operative hypocalcaemia (after thyroidectomy?). The patient has a history of hypothyroidism since 5 years. She then presented a cervical swelling. The ultra-sound confirmed the presence of a suspicious thyroid nodule measuring 4 cm. A thyroidectomy was then conducted. Post op...

Introduction: Pituitary apoplexy (PA) is a rare incident defined by the occurrence of necrosis and/or haemorrhage of the pituitary gland. The low incidence of PA makes it difficult to bring out from the studies its precipitating factors and especially its relationship with cardiovascular risk factors (CVR). The objectives of this studies were to characterize a number of patients with PA and to establish the link between PA and their CVRs.Methods: It is a...

Introduction: Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive inheritance. The deficit in 21-hydroxylase (21-OH) is by far the most common enzyme deficiency CAH, since it represents 95% of the cases. Fertility in wome is found to be reduced due to hormonal, mechanical and psychological factors.Patients and methods: It is about a descriptive and prospective study conducted in 15 patients collected in the endocrinology de...

Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), Graves’ disease (GD) and primary idiopathicmyxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed...

We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of linkage with the TPO gene. Sequencing of its 17 exons and their flanking intron-ex...

Introduction: Primary aldosteronism (PA) is associated with increased prevalence of metabolic disorders such as impaired glucose and lipid metabolism and insulin resistance. Individuals with PA have an increased risk of cardiovascular events. The aim of this study is to determine the characteristics of metabolic syndrome (MS) in patients with PA.Patients and methods: Retrospective study concerning 40 patients with PA over the period of 10 years from Janu...

Introduction: Hypoparathyroidism (HPTH) is an uncommon condition resulting in the production of insufficient amounts of parathyroid hormone (PTH) by the parathyroid glands consequently affecting the calcium phosphate balance. The most frequent etiology of HPTH is the damage to or removal of the parathyroid glands due to a surgery for another condition. Other causes, including autoimmunity and genetic disorders may be responsible for HPTH. Our aim is to compare the different cl...

Introduction: Multiple endocrine neoplasia type 2 is an inherited syndrome characterized by the characteristic combination of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. We report one case with phenotype-genotype mismatch.Observation: Patient A. T is 45 years of age with a family history of thyroid bone marrow cancer (CMT) and sister brain cancer, father colon cancer, with no personal history of disease. A 60 mm long-axis ...

Introduction: Acromegaly is a chronic, slowly progressing disease caused in most cases by growth hormone (GH)- producing pituitary adenoma. This rare disorder is associated with a spectrum of various clinical manifestations and treatment outcomes differ between patients. The aim of this study was to evaluate the impact of adenoma size on comorbidities and biochemical status at the diagnosis of disease.Methods: This is a one-centre cohort study conducted ...