Endocrine Abstracts

Background: Pheochromocytoma (PHEO) and paraganglioma (PGL) are the tumors of adrenal medulla and extra adrenal ganglia respectively. Most of these PHEO/PGL are benign and may become malignant, if remain undiagnosed/untreated for a longer time. Vaginal PGL are extremely rare. There is not much published literature on vaginal PGL.Objective: To carry out biochemical and genetic analysis of the patient with MIBG negative malignant vaginal PGL.<p class="...

Introduction: Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells within adrenal medulla and autonomic paragranglia respectively. Recent evidences show that nearly one-third patients harbour germline mutation, namely in von Hippel-Lindau (VHL), REarranged during Transfection (RET), neurofibromatosis type 1 (NF 1) and succinate dehydrogenase (SDH) complex genes. However, the tumor morphology arising in various syndrom...

Introduction: Gonadal dysgenesis (GD) is a congenital disorder which results in defective development of gonads. GD may be due to mutation(s) in any of the genes involved in gonadal development and differentiation. Here we present clinical and molecular profile (SRY and SOX9 gene) of patients with GD at our hospital.Methodology: Detailed clinical examination, karyotyping and molecular analysis of patients was done for SRY and SOX9 gene....

Background: Pheochromocytoma (PHEO) and paraganglioma (PGL) of abdominal origin secrete catecholamines which are metabolized to metanephrines. Head-and-neck paraganglioma (HNPGL) are considered as non secretary tumors.Objectives: To find the utility of plasma free metanephrine (MN), normetanephrine (NMN) and 3-methxytyramine (3-MT) for the differential diagnosis PHEO/PGL after excluding MEN2 and VHL patients.Methods: A total of 79 ...