Open AccessEndocrine manifestations of Von Hippel–Landau disease
Author(s) -
Roma Pradhan,
Nelson George,
Kausik Mandal,
Amit Agarwal,
Sushil K. Gupta
Publication year - 2019
Publication title -
indian journal of endocrinology and metabolism
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/ijem.ijem_252_18
Subject(s) - endocrine system , pheochromocytoma , medicine , von hippel–lindau disease , endocrine disease , disease , multiple endocrine neoplasia type 2 , pathology , bioinformatics , gene , genetics , hormone , biology , mutation , germline mutation
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by various endocrine, nonendocrine, benign, and malignant tumors in various organs. VHL tumor suppressor gene, located on short arm of chromosome 3 is responsible for this. Pheochromocytoma (PCC) is one of the important endocrine manifestations that needs to be ruled out in case of VHL suspicion. In this review, we summarize the endocrine manifestations of VHL disease and their management while giving case history of five such cases.