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TitlePolyendocrine Disorders and Endocrine Neoplastic Syndromes [electronic resource] / edited by Annamaria Colao, Marie-Lise Jaffrain-Rea, Albert Beckers
ImprintCham : Springer International Publishing : Imprint: Springer, 2019
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Descript X, 390 p. online resource


This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes. Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes.  On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations  such as pheochromocytoma/paraganglioma syndromes. The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management, including familial screening, as well as in terms of multidisciplinarity. This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology and genetics.  


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

Endocrinology Oncology   Endocrinology. Oncology.


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