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Inherited endocrine syndromes and multiple endocrine neoplasia 

Inherited endocrine syndromes and multiple endocrine neoplasia
Chapter:
Inherited endocrine syndromes and multiple endocrine neoplasia
Author(s):

Helen E. Turner

, Richard Eastell

, and Ashley Grossman

DOI:
10.1093/med/9780199672837.003.0014
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date: 02 April 2020

This chapter discusses the characteristic features, epidemiology, pathophysiology, clinical features, complications, and management of endocrine-related genetic disorders and diseases such as McCune–Albright syndrome, endocrine tumours in neurofibromatosis type 1, Von Hippel–Lindau disease (VHL), Carney complex, Cowden syndrome, and multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2, respectively). It also provides some remarks on multiple endocrine neoplasia type 4 (MEN4). Given the genetic basis of disorder manifestation, the chapter discusses the relation of disease severity to the genome and genetic variations of the causes for endocrine system disorders.

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