Full Description
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 - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment.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 , genetics and imaging.
Contents
Introduction.-Auto-immune polyglandular syndromes (APS)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.
