Endocrine Abstracts

Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disease characterized by defects in multiple organ systems, presenting with diverse clinical manifestations such as retinopathy, polydactyly, obesity, intellectual developmental disorders, hypogonadism, renal dysfunction, among others.Clinical Case 1: 49-years-old female, case index, followed multidisciplinary since the age of three due to progressive night blindness from generalized retin...

Introduction: Neuroendocrine Tumors of the Colon are often aggressive and metastatic at diagnosis. The diagnosis is histologicaly obtained through immunohistochemical evaluation of biopsy specimens/metastases, with positive staining for Chromogranin A and Synaptophysin.Case Report: A 54-year-old independent patient with Type 1 Diabetes, leading to diabetic nephropathy, underwent a renal transplant followed by graft failure and is currently on hemodialysi...

Introduction: Pituitary metastases are rare, accounting for only 1% of intracranial metastases and predominantly originating from breast and lung tumors. Pituitary involvement is observed in only 6–8% of breast cancer cases, with an overall unfavorable prognosis.Case series: A 53-year-old woman, with a six-year history of breast cancer metastasized to the lungs, presented with a three-month history of headaches, visual disturbances, asthenia, weight...

Introduction: Proinsulinoma is an infrequent subtype of pancreatic neuroendocrine tumor (pNET), characterized by the excessive secretion of proinsulin, leading to pronounced hypoglycemia. Clinical manifestations comprise neuroglycopenic and autonomic symptoms, including cognitive impairment, seizures, visual disturbances, diaphoresis, tremors, syncope or coma. Diagnostic modalities involve blood assays and imaging to detect heightened proinsulin production and determine the tu...