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.
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.
Annamaria Colao is a professor at "Federico II" University of Naples and chief of the Neuroendocrine Unit, University Federico II, Naples, Italy. Her current areas of research include the molecular basis and clinical treatment of neuroendocrine tumors and tumors in the hypothalamus/pituitary region, the consequences of deficiency and excess of GH and IGF-I for the cardiovascular system, endocrine consequences in survivors of malignant neoplasia, and insulin resistance and cancer. Dr. Colao is a member of numerous medical societies, including the Italian Society of Endocrinology, the European Neuroendocrine Association, and the European Society of Endocrinology. She is the author of more than 500 peer-reviewed publications.
Marie-Lise Jaffrain-Rea is an assistant professor at the University of L'Aquila and head of the Neuroendocrinology service at the Neuromed Institute in Pozzilli, Italy. She is also an invited professor at the University of Liege, Belgium. Her main areas of research are pituitary diseases and tumors of the sellar region, the pathogenesis and genetic basis of pituitary adenomas and their impact on familial screening and pharmacological treatment, as well as systemic complications of pituitary hormone hypersecretion. She is a member of the Italian Society of Endocrinology, the European Neuroendocrine Association and the European Society of Endocrinology. She is the author or co-author of 80 peer-reviewed publications and book chapters and over 200 communications at national and international scientific meetings.
Albert Beckers is a professor at the University of Liege and chief of the Department of Endocrinology at the University Hospital Centre, Liege and Belgium. His research areas include pituitary tumors, thyroid disease, genetic causes of endocrine cancers and rare inherited syndromes, with a special interest in the genetics of acromegaly and gigantism and their clinical implications. He is a member of numerous medical societies, including the Belgian Endocrine Society, the European Neuroendocrine Association, and the European Society of Endocrinology and was awarded the 2016 Geoffrey Harris Prize of the European Society of Endocrinology. He has taken a particular interest in endocrine education, authoring a series of digital projects on aspects of pituitary disease. He is the author or co-author of more than 250 peer-reviewed publications and over 40 books and book chapters.