Endocrine Abstracts

IntroductionCirculating cell-free deoxyribonucleic acid (cfDNA) is a topical subject that has proven its place in oncology. However, its regular use is always compromised by the relatively high cost of the technique. The objective of our study is to determine the usefulness of cfDNA in the management of obese patients with breast cancer as well as its prognostic impact.MethodsUsing real-time multiplex polymer...

IntroductionAltered levels of circulating cell-free deoxyribonucleic acid (ccf DNA) have been found in several pathologies and might have a diagnostic value. With the steadily growing number of studies in the issues related to obesity research, it is proven, that obesity might be related to wide number of body disorders. In the current opinion, we hypothesized that there is a correlation between obesity and elevated cfDNA levels in the circulation.<p...

Introduction Multiple autoimmune syndrome (MASI) is a rare entity, defined by the presence of at least three autoimmune diseases in the same person. We report two specific observations of myasthenia gravis in the context of an SAIM3. Observation 1 A 58-year-old man initially presented bilateral ptosis, difficulty chewing and swallowing, dysphonia and fatigability. Myasthenia gravis was suspected due to the ag...

IntroductionType 3 autoimmune polyendocrine syndrome (APS-3) is defined by the presence of an autoimmune thyroid disease and another autoimmune illness, excluding Addison’s disease; this is a frequent combination. Graves’ disease (GD) is an autoimmune disorder affecting approximately 0.5% of general population. It’s occurrence in autoimmune polyendocrine syndrome (APS) is less common than Hashimoto thyroiditis. The aim of our study was to ...

IntroductionAutoimmune Polyendocrine Syndrome (APS) is defined by the presence of 2 or more autoimmune induced endocrine failures in a single patient. There are 4 types of APS: type1 including chronic muco-cutaneous candidiasis, hypoparathyroidism, Addison disease (AD) and ectodermal dystrophy, APS type 2 and 3 containing autoimmune thyroide disease (AITD), type1 diabetes (DT1) with (type2) or without adrenal failure (type3) and type 4 not falling into t...

We aimed to identify causal mutation(s) in 2 patients (P1 and P2) with thyroid dyshormonogenesis (TD) from a consanguineous Tunisian family. Patient P1 developed TD at age 10; while P2 developed it at a late age (30 years) with no goiter. Scintigraphy showed homogeneous uptake of 131I in P1 patient. Genetic analysis was performed using candidate gene approach. Thus, sequencing of the 17 exons of the TPO gene revealed only presence of rs4927611 polymorphism ...

IntroductionVasculitis with antineutrophilic cytoplasmic antibodies (ANCA) has been reported in patients treated with anti-thyroid drugs, especially Propylthiouracil and exceptionally with benzylthiouracil (BTU). We present here a case of ANCA-anti-MPO-associated vasculitis related to BTU.Case presentationA 46 old women was treated with BTU during 18 months for Basedow’s...

Introduction: Cortisol level measurement is required in the diagnosis and management of adrenal, pituitary and hypothalamic pathologies.Aim: The aim of this study was to evaluate clinician’s practice in ordering cortisol test.Methods: A retrospective study concerning 63 cortisol requests data collected by the laboratory computer system (Health Lab) between January 2024 and February 2024. Only requests of 0800 hours plasma cort...

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: Allgrove syndrome or Triple A (3A) syndrome is a rare autosomal recessive disease characterized by alacrima, esophageal achalasia and adrenocorticotropic hormone-resistant adrenal insufficiency.Observation: A 3-year-old and 9 months patient, from a consanguineous marriage, consulted for melanoderma, with family history: sisters with an heterozygous mutation of the AAAS gene, two paternal cousins, 5 years and 22 years, followed for autism an...