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Inherited endocrine syndromes and multiple endocrine neoplasia 

Inherited endocrine syndromes and multiple endocrine neoplasia
Inherited endocrine syndromes and multiple endocrine neoplasia

Helen E. Turner

, Richard Eastell

, and Ashley Grossman

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date: 27 July 2021

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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