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...

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...

IntroductionPancreatitis is an inflammatory condition of the pancreas, which has known an increased incidence over the last years. Gallstones and alcohol abuse are the most common causes. But many risk factors are associated with pancreatitis, including Type 2 diabetes who has an estimated risk of pancreatitis at nearly three times the risk of non-diabetics. The aim of our work is to study the relationship between these two entities.<p class="abstext...

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 ...

Aryl hydrocarbon receptor-interacting protein (AIP) is a highly expressed, evolutionary conserved little-known co-chaperone molecule that can bind to client proteins. Heterozygous loss-of-function mutations of AIP are associated with pituitary adenomas. Multiple lines of evidence suggest that AIP has important functions beyond the pituitary gland. Homozygous loss of AIP is lethal, with cardiac abnormalities seen in mice and failure-to-thrive seen in fruit flies and C.elegans. ...

Background: Diabetes mellitus poses a global chronic health challenge, with Tunisia experiencing a concerning surge in type 2 diabetes (T2D) prevalence. Cardiovascular and renal complications are prominent and severe consequences associated with T2D. Evaluating the costs related to managing these complications is crucial to enhance care quality, optimize resource utilization, and ultimately reduce the growing economic and social burden of this chronic disease.<p class="abs...

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...