Endocrine Abstracts

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

Introduction: Paraganglioma (PGL) is a neuroendocrine tumor (NET) originating from the neural crest cells. Head and neck paraganglioma (HNPGL) often presents as an asymptomatic slow growing tumor and is rarely functional. Adrenal incidentaloma (AI) is defined as a silent adrenal mass detected on imaging performed for unrelated disorder. Malignant peripheral nerve sheath tumor (MPNST) is a variety of soft tissue sarcoma derived from cells of neural crest....

Introduction: The association between pituitary adenoma and hyperparathyroidism is the main feature of multiple endocrine neoplasia (MEN) 1 but also for a novel MEN4 syndrome. Germline mutations in the cyclin-dependent kinase (CDK) inhibitor 1b gene (CDKN1B) were identified in patients with MEN4. The most common phenotype of the 19 established cases of MEN4 that have been described since now is primary hyperparathyroidism (PHPT) followed by pituitary adenomas. There are a limi...