Endocrine Abstracts

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...

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 ...

Introduction: Multiple autoimmune syndrome (MAS) is a rare condition, first described by Humbert and Dupond in 1988 and characterised by three or more autoimmune disorders in the same individual.Case description: Here we present a case of 14-year-old female patient diagnosed with ocular myasthenia gravis. The diagnosis of Graves’ disease was suspected on the basis of hyperthyroidism symptoms and confirmed by undetectable TSH level (<0.01 mUI/l) ...

Introduction: Mitochondrial diabetes (MD) is characterized by a broad spectrum of phenotypic and genotypic involvement. Through a cohort study of 40 patients with DM, we tried to correlate this diversity of phenotypic expression with the biomolecular substratum of the mitochondrial genome in the Tunisian population.Results: Epidemiologically and anthropometrically, our series fits the literature data with age at 31.6 years (5–52), female predominanc...

Introduction: Primary amyloidosis is a multi-systemic disease difficult to identify given the diversity of the disorders that it can cause especially at an early stage of the disease. This makes its diagnosis difficult in case of association with a pathology that can be intricate with its clinical expression. In this context we report the first case in the literature associating mitochondrial diabetes (DM) with a primary amyloidosisCase: A 32 years old g...

Introduction: Turner Syndrome (TS) is known to be associated with congenital malformations and a greater incidence of autoimmune disease. Many others organs systems are also affected to varying degrees and at different stages of life such as abnormal liver function. This disease is often detected on routine investigation and is not accompanied by signs or symptoms of liver disease. We report the case of a young Turnerian who presents a disruption of his hepatic balance with a ...

IntroductionDermatological manifestations associated with diabetes affect approximately 30% of patients. Diabetic Bullosis is a rare complication of diabetes. It is a rare bullous dermatosis charecterised by the occurrence of bubbles on healthy skin with variable levels of cleavage.ObjectiveWe propose to study the epidemiological, clinical and evolutionary characteristics of Diabetic Bullosis in diabetic pati...

IntroductionUncontrolled hyperglycemia of diabetes is a common cause of renal failure and diabetic nephropathy, which is also called diabetic kidney disease (DKD). Despite improvements in the management of type 1 diabetes (T1D), progression of diabetic nephropathy remains unpredictable and associated with high morbidity and mortality. The objective of this study is to assess the prevalence and risk factors for diabetic kidney disease among adults-onset T...

Sexual differentiation is a sequential process where several genes are involved, therefore a defect at any stage can lead to a divergence between genetic, gonadal and phenotypic sex. The objective of our work is to analyze the clinical and hormonal characteristics of 13 XY patients, explored between 1989 and 2007 and belonging to 10 different families. The average age of our patients was 18.9 years (2–33 years). The reason for consultation was sexual ambiguity in two case...

Background and aim: Congenital Growth hormone deficiency (CGHD) may result from genetic or congenital disorders of pituitary development. It could be isolated or combined with other types of hypopituitarism. This study aims to evaluate the prevalence of combined hypopituitarism and its associated factors in patients with CGHD.Patients and Methods: We conducted a retrospective study (1991-2019) at the Endocrinology department of Hedi Chaker University Hos...