Polyendocrine Disorders and Endocrine Neoplastic Syndromes

Polyendocrine Disorders and Endocrine Neoplastic Syndromes

Jaffrain-Rea, Marie-Lise; Beckers, Albert; Colao, Annamaria

Springer International Publishing AG

08/2021

429

Dura

Inglês

9783319894966

15 a 20 dias

959

Descrição não disponível.
Introduction.-Auto-immune polyglandular syndromes (APS): an overview.- The natural history of APS1: pathogenesis and long term follow-up.- The genetics of AIRE: an update.- Auto-antibodies in polyendocrine auto-immune disorders: an update.- Rare forms of endocrine and systemic auto-immune disorders: IPEX and "other POEMS".- Auto-immune endocrine diseases and cancer immunotherapy.- Part 2: MEN1: an update on molecular diagnosis and clinical implications.- MEN2: an update on molecular diagnosis and clinical implications.- MEN4 and other MEN1-like syndrome.- Genetic alterations in the cAMP pathway: MAS, Carney complex (and AIP?).- Endocrine tumours associated with SDHx mutations: pheochromocytomas, paragangliomas and pituitary adenomas.- Endocrine tumours in complex genetic disorders: lessons from pheochromocytomas and hyperparathyroidism.
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Autoimmune polyendocrine syndromes;Multiple Endocrine Neoplasia MEN;Syndromic diseases;Genetics;Familial screening