Endocrine Abstracts

Introduction: Polyuria-polydipsia syndrome (PUPDS) requires a comprehensive diagnostic approach as it can reveal serious medical conditions. We report the case of a patient consulting for PUPDS related to a primary potomania. Case presentation: A 41-year-old patient with a history of multiple psychostimulants use was admitted for acute PUPDS after emotional shock and paucisymptomatic SARS-CoV-2 infection. Diuresis was estimated at 6 liters per 24 hours. ...

Background: Macro-TSH, a rare condition, should be considered in asymptomatic patients presenting with a biological profile of subclinical hypothyroidism, thus avoiding unnecessary treatment. We report the case of a patient with macro-TSH.Case Presentation: A 41-year-old man was transferred from the Cardiology Department for further exploration of elevated TSH. He has been hospitalized for acute decompensation of heart failure. A thyroid workup revealed ...

Introduction : Primary adrenal lymphomas (PAL) are extremely rare and constitute 0.5% of all adrenal tumors. The number of cases described is approximately 70 cases [1] and It is bilaterally manifested in approximately 70% of cases [2]. The diagnosis is made on histological features, as there is no specific symptoms. Treatement is based on chemotherapy and prognosis is usually poor. We report two cases of bilateral PAL.Cases: First case: A 63-year-old wo...

Introduction: Advances in diagnosis and treatment over the years have improved the life expectancy and quality of life for individuals with congenital adrenal hyperplasia (CAH). The inevitable alteration of the hypercortisolism-hyperandrogenism balance with current CAH therapy could be responsible for several anomalies in the gonadotropic axis and compromise fertility. This study aims to investigate this aspect in an aging Tunisian population of patients with CAH.<p class=...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease with an incidence of 1 in 30,000. It is the most common cause of persistent neonatal hypoglycemia, primarily due to inhibitory mutations in genes encoding the ATP-sensitive potassium channel in pancreatic beta cells, with ABCC8 (SUR1) and KCNJ11 (Kir6.2) mutations being the most frequent. In this context, we report a highly unusual case in terms of phenotypic and evolutionary aspects.Clinic...

Introduction: Non-Islet Cell Tumor Hypoglycemia (NICTH) is a rare but serious condition. We report a case of NICTH in a patient with a gastrointestinal stromal tumor.Observation: The patient was a 56-year-old with a history of metastatic gastrointestinal stromal tumor (GIST), diagnosed and operated on in 2016. He received tyrosine kinase inhibitors: Imatinib for 5 years, followed by sunitinib with two courses, and was later declared in palliative care du...

Introduction: Obesity, in its common form, exhibits extreme genetic heterogeneity, and its mode of transmission remains unknown. To investigate the impact of the genetic component, we conducted an association study between polymorphisms of functional and positional candidate genes: Leptin and its receptor gene (LEP, LEPR), Melanocortin 4 Receptor (MC4R), FTO gene: Fat mass and associated obesity, and Pro-opiomelanocortin gene (POMC); with obesity and associated phenotypes (ant...