Polyendocrine Disorders and Endocrine Neoplastic Syndromes

1. Autoantibodies in Autoimmune Polyendocrine Syndrome

   • Isabella Lupi, Alessandro Brancatella, Patrizio Caturegli

2. Autoimmune Polyendocrine Syndromes (APS) or Multiple Autoimmune Syndromes (MAS)

   • Corrado Betterle, Chiara Sabbadin, Carla Scaroni, Fabio Presotto

3. Carney Complex in Clinical Practice

   • Filippo Ceccato, Gianluca Occhi

4. Coexistence of Endocrine Side Effects of Immunotherapy in Clinical Practice

   • Frederique Albarel, Frederic Castinetti

5. Genetic Heterogeneity in Adrenal Insufficiency

   • Rosario Pivonello, Chiara Simeoli, Rosario Ferrigno, Maria Cristina De Martino, Davide Menafra, Cristina De Angelis et al.

6. Genetics of Autoimmune Regulator (AIRE) and Clinical Implications in Childhood

   • Improda Nicola, Salerno Mariacarolina, Capalbo Donatella

7. Genetics of Pituitary Gigantism: Syndromic and Nonsyndromic Causes

   • Liliya Rostomyan, Iulia Potorac, Adrian F. Daly, Albert Beckers

8. Hyperparathyroidism in Complex Genetic Disorders

   • Francesca Marini, Francesca Giusti, Maria Luisa Brandi

9. Hypophysitis and Granulomatous Pituitary Lesions in Systemic Diseases

   • Marie-Lise Jaffrain-Rea, Silvia Filipponi

10. McCune-Albright Syndrome in Clinical Practice

    • Sylvie Salenave, Philippe Chanson

11. MEN2 in Clinical Practice

    • Roberta Centello, Antongiulio Faggiano, Elisa Giannetta

12. Molecular Alterations of the cAMP Signaling Leading to Endocrine Tumors

    • Anna Vaczlavik, Jérôme Bertherat

13. Multiple Endocrine Neoplasia Type 1

    • Pauline Romanet, Pierre Goudet, Anne Barlier

14. Multiple Endocrine Neoplasia Type 1 in Clinical Practice

    • Pauline Delannoy, Iulia Potorac, Albert Beckers

15. Multiple Endocrine Neoplasia-Type 2

    • Vincent Rohmer, Delphine Prunier-Mirebeau, Iulia Potorac

16. Multiple Endocrine Neoplasia-Type 4 (MEN4) and Other MEN1-Like Syndromes

    • Ninelia Minaskan Karabid, Natalia S. Pellegata

17. Neuroendocrine Neoplasms (NENs) in Complex Genetic Disorders

    • Wouter W. de Herder

18. Pheochromocytomas in Complex Genetic Disorders

    • Giuseppe Opocher, Alfonso Massimiliano Ferrara, Stefania Zovato, Giovanni Barbon, Elisa Taschin, Francesca Schiavi

19. Pheochromocytomas, Paragangliomas, and Pituitary Adenomas (3PAs) and Succinate Dehydrogenase Defects

    • Andrew P. Demidowich, Constantine A. Stratakis

20. Rare Forms of Endocrine and Systemic Autoimmune Disorders

    • Federica Guaraldi, Sofia Asioli, Valentino Marino Picciola, Diego Mazzatenta, Giovanni Corona

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 havebeen 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.  

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

• Neuroendocrine Unit, University of Naples Federico II Neuroendocrine Unit, Naples, Italy

  Annamaria Colao

• Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila and Neuroendocrinology, Neuromed IRCCS, L'Aquila, Italy

  Marie-Lise Jaffrain-Rea

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

  Albert Beckers

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 Liège, 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 Liège and chief of the Department of Endocrinology at the University Hospital Centre, Liège 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.&nb

sp; 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.

Policies and ethics