Rare diseases in clinical endocrinology: a taxonomic classification system.
OBJECTIVE
Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced.


RESULTS
This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables.


CONCLUSIONS
This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.
Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. gemma.marcucci@libero.it.
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Marcucci
Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
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Cianferotti
Department of Clinical Sciences and Community Health, University of Milan and Endocrine Unit, Fondazione IRCCS Ca' Granda, Milan, Italy.
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Beck-Peccoz
Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Policlinico Santa Maria alle Scotte, Siena, Italy.
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Capezzone
Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
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Cetani
Dipartimento di Medicina Clinica e Chirurgia, Università Federico II di Napoli, Naples, Italy.
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A
Colao
Section D, Department of Medicine, Clinic of Internal Medicine, University of Verona, Verona, Italy.
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Davì
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
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degli Uberti
Section of Metabolic Diseases and Diabetes, Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
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Del Prato
Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
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Elisei
Dipartimento di Medicina Clinica e Chirurgia, Università Federico II di Napoli, Naples, Italy.
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A
Faggiano
Endocrinology, Department of Internal Medicine and Medical Specialties and Center of Excellence for Biomedical Research, IRCCS AOU San Martino-IST, University of Genoa, Genoa, Italy.
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D
Ferone
Department of Medicine and Centre for Human Reproduction Pathology, University of Padova, Padua, Italy.
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C
Foresta
Department of Clinical Sciences and Community Health, University of Milan and Endocrine Unit, Fondazione IRCCS Ca' Granda, Milan, Italy.
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Fugazzola
Division of Endocrinology, Diabetology and Metabolism Department of Medical Sciences, University Hospital Città Salute e Scienza, Turin, Italy.
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Ghigo
Division of Endocrinology, Azienda Ospedaliero-Universitaria, Ospedali Riuniti Umberto I-GM Lancisi-G Salesi, Università Politecnica delle Marche, Ancona, Italy.
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Giacchetti
Section of Internal Medicine, Endocrinology, Andrology and Metabolic Diseases, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy.
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Giorgino
Chair of Endocrinology, Section Medical Pathophysiology, Food Science and Endocrinology, Department Exp. Medicine, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy.
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A
Lenzi
Endocrinology, Department of Clinical and Molecular Biomedicine, Garibaldi-Nesima Medical Center, University of Catania, Catania, Italy.
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Malandrino
Endocrinology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
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M
Mannelli
Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
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Marcocci
Department of Orthopedic, Metabolic Bone Diseases Unit AOUC-Careggi Hospital, Largo Palagi, 1, Florence, Italy.
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Masi
Section of Endocrinology and Metabolism, University of Siena, Siena, Italy.
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Pacini
Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padua, Italy.|Department of Medicine DIMED, University of Padova, Padova, Italy.
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Opocher
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
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A
Radicioni
Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
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Tonacchera
Department of Clinical and Molecular Biomedicine, University of Catania, and Humanitas Catania Center of Oncology, Catania, Italy.
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Vigneri
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
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Zatelli
Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. marialuisa.brandi@unifi.it.
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Brandi
D000328:Adult; D002965:Classification; D004700:Endocrine System Diseases / Q000145:classification* / Q000175:diagnosis; D004704:Endocrinology / Q000145:classification* / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D035583:Rare Diseases / Q000145:classification* / Q000175:diagnosis; D058028:Research Report
Endocrine glands; Endocrinopathy; Neuroendocrine tumors; Orphan disease; Taxonomy