Polyendocrine Disorders and Endocrine Neoplastic Syndromes

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.

• Autoimmune polyendocrine syndromes
• Multiple Endocrine Neoplasia MEN
• Syndromic diseases
• Genetics
• Familial screening

• Department of Clinical Medicine and Surgery, Section of Endocrinology - Neuroendocrine Unit, University of Naples “Federico II”, Naples, Italy

  Annamaria Colao

• Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy

  Marie-Lise Jaffrain-Rea

• Department of Endocrinology, University of Liège, Centre Hospitalier, Universitaire de Liège, Liège, Belgium

  Albert Beckers

Pr. Annamaria Colao is full professor of endocrinology and chair of the Section of Endocrinology in the Department of Clinical Medicine and Surgery at the “Federico II” University of Naples. Coordinator of national and international research projects with a scientific activity characterized by publication of more than 900 full papers in international journals (h-index 117), she has published more than 100 chapters in multiauthored books and monographs. She is one of the top Italian female scientists. Prof. Colao is responsible for Italy as member the European network ENDO-ERN (European Reference Network) for the study of rare endocrine diseases in adults, and she coordinates the regional center at the Federico II University, where she is also responsible for the European center of excellence ENETS (for the study of neuroendocrine tumors) and the center of excellence for the diagnosis and treatment of obesity CIBO (accredited with SIO and EASO). Past president of theNational Council of Scientific Research Guarantors at the Ministry for University and Research, she also served as a president of the European Society of Neuroendocrinology (ENEA, 2016-2018) and is the president-elect of the Italian Society of Endocrinology for a 2-year period, 2021–2023 (the first woman in the history of the Society). She is also founder and president of Campus Salute Onlus (www.campussalute.it), a non-profit association dedicated to health. Since 2019, she has been serving as a UNESCO Chairholder – Unesco Federico II Chair “Education for health and sustainable development.” In 2020, she was awarded the prestigious “Geoffrey Harris” by the European Society of Endocrinology for her life achievements in the field of neuroendocrinology.

Pr. Marie-Lise Jaffrain-Rea is associate professor of endocrinology in the Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila (AQ), Italy, and the head of the neuroendocrinology service at the Neuromed Institute, IRCCS, in Pozzilli (IS), Italy. She obtained her medical degree and specialization in endocrinology from France (University Paris V) and a scientific “Maitrise” in biochemistry (University Paris VI). She previously worked as a researcher in general pathology at the University of L’Aquila maintaining a regular clinical activity and research in the field of endocrinology and endocrine neoplasia. Since 2011, she also serves as an invited professor of endocrinology at the University of Liège, Belgium. Her main areas of interest are pituitary diseases and sellar/parasellar neoplasia, the pathogenesis and genetic basis of pituitary neuroendocrine tumors and their clinical impact, as well as the systemic aspects of hypothalamic-pituitary diseases. She has authored or co-authored more than 90 peer-reviewed publications and book chapters and more than 230 communications at national and international scientific meetings. She is interested in teaching and promoting knowledge on endocrinology and serves as a voluntary consultant for the non-profit “Carlo Ferri” Foundation for the prevention in oncology, ONLUS, in Monterotondo (RM), Italy. She is a member of the Italian Society of Endocrinology, the European Neuroendocrine Association, the European Pituitary Pathology Group, and the European Society of Endocrinology.

Prof. Albert Beckers, M.D., Ph.D., is head of the Department of Endocrinology at the University Hospital Centre, Liège, and full professor at the University of Liège, Belgium. He oversees a department with multiple clinical and research areas of interest, including pituitary tumors, thyroid disease, genetic causes of endocrine cancers, and rare inherited syndromes. Current research interests include the genetics of pituitary diseases, molecular and genetic investigation of rare disorders of endocrine development, gigantism and acromegaly, and new treatments for aggressive endocrine tumors.Research highlights include the original characterization and description of familial isolated pituitary adenomas (FIPA) and a newly described pediatric syndrome X-linked acrogigantism (X-LAG). He has published more than 300 original articles, including high-impact international journals such as The New England Journal of Medicine, Endocrine Reviews, and the Journal of Clinical Endocrinology & Metabolism. He is also involved in endocrine education, authoring a series of digital projects on pituitary diseases, and has organized many national and international congresses. He has served as president of the Belgian Endocrine Society (two mandates) and secretary of the European Neuro- Endocrine Association (ENEA). In 2016, he received the 2016 Geoffrey Harris Award of the European Society of Endocrinology (ESE), the most prestigious ESE prize given in recognition of achievements by senior researchers in the field of basic and clinical neuroendocrinology. In 2017, he received the Rolf Gaillard Prize of the European NeuroEndocrine Association, the highest ENEA award given in recognition of outstanding lifetime contributions to the field of basic and clinical neuroendocrinology. He is also a member of the Royal Academy of Medicine (Belgium) and Doctor Honoris Causa at the Aix-Marseille University (France).

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