Endocrine Abstracts

Introduction: Deficiency of 17-βHSD3 is a rare autosomal recessive disorder of sex development manifesting in XY karyotype individuals. The presentation can range from partial or incomplete virilisation at birth to primary amenorrhoea and virilisation at puberty of an externally phenotypically female individual.Case reports: Case1 A 2-year-old girl presented with ambiguity of external genetalia. She had no significant past medical or surgical histor...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disease since it affects 1/3000–1/4000 births. The involvement of genetics is no longer discussed and several genes have been implied in the different clinical forms of thyroid dysgenesis.Patients and methods: We report ten cases of thyroid dysgenesis collected at the pediatric and endocrinology departments of Sfax in Tunisia. The diagnosis was based on clinical, bi...

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...

IntroductionThe association of type 1 diabetes with other autoimmune diseases is well known due to a common genetic terrain of varied clinical expressions. However, the occurrence of systemic diseases in diabetic patient, whatever the type of diabetes, is poorly studied. The objective of this study is to describe autoimmune and inflammatory diseases associated with diabetes.Materials and methodsIt ’ s a ...

IntroductionNon-functioning pituitary adenomas (NFPA) present approximately 15% to 30% of all pituitary adenomas. They are most commonly misdiagnosed, until they are large enough to lead to mass effect and hypopituitrasm. The present study was carried out with the aim of studying the clinical and biological characteristics of patients who are followed for NFA.Patients and methodsThis is a retrospective study ...

Introduction: Congenital adrenal hyperplasia (CAH) in its classical form is an early-onset and challenging-to-treat condition with long-term evolution associated with significant morbidity, typically involving metabolism, bone, and gonadal aspects. Through this specific case study, we illustrate one of the rare complications of CAH in adulthood.Case Report: A 24-year-old patient, born of consanguineous parents, has been monitored since birth for classica...

Introduction: The H syndrome, an autosomal recessive genodermatosis, is characterized by cutaneous and systemic manifestations resulting from mutations in the SLC29A3 gene (10q22.2), leading to histiocytic infiltration of multiple organs. This study presents a new observation of H syndrome.Observation: We report the case of a 33-year-old patient, born of consanguineous parents, with a history of diabetes diagnosed at the age of 28 and treated with oral a...

Background: Diabetes mellitus presents a pervasive global health challenge, and Tunisia grapples with a concerning upswing in the prevalence of type 2 diabetes (T2D). Cardiovascular and renal complications stand out as prevalent and severe outcomes linked to T2D. Evaluating the costs associated with managing these complications in T2D patients is pivotal for improving care quality, optimizing resource allocation, and ultimately mitigating the escalating economic and social bur...

Introduction: Obesity is recognized as a risk factor for cardiovascular diseases. She can be associated with cardio-metabolic diseases. The objective of our study was to determine the metabolic profile of our obese adults.Materials and methods: This is a descriptive cross-sectional study involving obese adults consulting the service of Endocrinology of Sfax, Hedi Chaker University Hospital in 2023.Results: We recruited 40 obese pat...

Introduction: Multiple Endocrine Neoplasia Type 1 (MEN1) represents a rare genetic disorder characterized by a predisposition to various endocrine neoplasms, primarily affecting the parathyroid, endocrine pancreas, and pituitary gland. So far, Papillary Thyroid Carcinoma (PTC) has been detected in more than 25% of individuals bearing the MEN mutation, even though this particular cancer type does not usually belong to the clinical spectrum associated with this condition.<p ...