Endocrine Abstracts

Introduction: There is scarcity of information regarding the profile of patients with Pheochromocytoma and paraganglioma from India.Aim: To study clinical profile of patients with Pheochromocytoma (PHEO)/Paraganglioma (PGL) attending the AIIMS hospital.Methodology:: Study protocol was approved by the AIIMS ethics committee. Written informed consent was taken from patients (parents in case of children). Patients of PHEO & PGL at...

Introduction: 5 α-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder.Aim: To identify mutations in the SRD5A2 gene in patients with 5α SRD.Methods: Patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α RD were eligible to be included in this study. The study was approved by AIIMS ethics committee, written informed consent was obtained from pat...

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: 5 alpha-steroid reductase deficiency (5α SRD) is a rare autosomal recessive disorder. Presented here is the clinical profile and long term outcomes of subjects with 5α SRD examined in our hospital during the last 30 yrs.Methods: Records of patients registered in the endocrine clinic of our hospital and new patients with diagnosis of 5α SRD were compiled. Details of history,physical examination,chromosomal analysis, hormonal s...

Introduction: Extra adrenal paraganglioma (PGL) account for approximately 15% of all pheochromocytoma. Urinary bladder & mediastinum are rarest form of PGL. We present a case of bladder &Mediastinal PGL with a novel mutation in exon 1 of SDHB gene.Case Report: 18 years old male patient was admitted with five years episodic symptoms of headache, sweating, and palpitations, especially after urination. He also complained of postural dizziness for la...