Searchable abstracts of presentations at key conferences in endocrinology

ea0035p582 | Endocrine tumours and neoplasia | ECE2014

Eleven base pair (AACACTCTAGC) deletion of SDHB Ex-4 from c.325 to c.335 in the patient with malignant Vaginal Paraganglioma – A case report

Gupta Poonam , Khurana Madan Lal , Ammini A C , Bal C S

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="...

ea0035p335 | Developmental Endocrinology | ECE2014

Clinical and molecular profile of patients with gonadal dysgenesis attending tertiary care hospital.

Chauhan Vasundhera , Khurana Madan Lal , Gupta Poonam , Sabir Iram , Ammini A.C

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....

ea0035p580 | Endocrine tumours and neoplasia | ECE2014

Plasma free metanephrine, normetanephrine and 3-methoxytyramine for the differential diagnosis of pheochromocytoma and paraganglioma

Gupta Poonam , Khurana Madan Lal , Sharma S C , Bal C S , Ammini A C

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 ...