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Elena Galazzi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Paolo Duminuco IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Mirella Moro IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Fabiana Guizzardi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Nicoletta Marazzi IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy

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Alessandro Sartorio IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy

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Sabrina Avignone Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy

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Marco Bonomi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Luca Persani IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Maria Teresa Bonati IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy

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, FSHB , FEZF1 , NSMF , LHB , FGF17 , PROK2 , FGF8 , PROKR2 , FGFR1 , SEMA3A , FLRT3 , SEMA3E , GNRH1/2 , SEMA7A , SOX10 , GNRHR , SOX2 , HS6ST1 , HESX1, SPRY4 , IL17RD , TAC3 , ANOS1 ( KAL1 ), TACR3 , KISS1 , WDR11 , KISS1R , LHX

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0486
Volume/Issue:
Volume 7: Issue 12
Open access
Tomás P Griffin Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland

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Caroline M Joyce Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland

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Sumaya Alkanderi Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Liam M Blake Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland

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Derek T O’Keeffe Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland

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Delia Bogdanet Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland

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Md Nahidul Islam Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland

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Michael C Dennedy Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Lambe Institute for Translational Research, School of Medicine, NUIG, Galway, Ireland

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John E Gillan Department of Histopathology, SUHCG, GUH, Galway, Ireland

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John J Morrison Department of Obstetrics and Gynaecology, SUHCG, GUH, Galway, Ireland

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Timothy O’Brien Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland

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John A Sayer Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK
NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK

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Marcia Bell Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland

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Paula M O’Shea Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland

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(Ca 2+ ) (mmol/L), albumin (g/L), phosphate (mmol/L), vitamin D metabolites (25(OH)D, 1,25(OH) 2 D, 24,25(OH) 2 D), iPTH, fibroblast growth factor 23 (FGF-23), creatinine (estimated glomerular filtration rate (eGFR) using the CKD

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0150
Volume/Issue:
Volume 9: Issue 6
Open access
Katherine U Gaynor Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Irina V Grigorieva Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Samantha M Mirczuk Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Sian E Piret Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Kreepa G Kooblall Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Mark Stevenson Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Karine Rizzoti The Francis Crick Institute, London, UK

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Michael R Bowl Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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M Andrew Nesbit Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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Paul T Christie Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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William D Fraser Norwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK

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Tertius Hough MRC Mammalian Genetics Unit, MRC Harwell Institute, Harwell Science and Innovation Campus, Oxfordshire, UK

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Michael P Whyte Washington University in St Louis School of Medicine, Center for Metabolic Bone Disease and Molecular Research, St Louis, Missouri, USA

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Robin Lovell-Badge The Francis Crick Institute, London, UK

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Rajesh V Thakker Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK

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disease mechanism in this family was postulated to be a position effect on fibroblast growth factor 13 ( FGF13 ), located ~1.2 Mb proximal to the insertion site, and decreased expression of FGF13 , which is found in developing hair follicles, dental

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0478
Volume/Issue:
Volume 9: Issue 2
Open access
Devis Pascut Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Sofia Tamini Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy

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Silvia Bresolin Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy

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Pablo Giraudi Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Giuseppe Basso Laboratory of Onco-Hematology, Department of Women’s and Children’s Health, University of Padova, Padova, Italy

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Alessandro Minocci Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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Claudio Tiribelli Fondazione Italiana Fegato – ONLUS, Trieste, Italy

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Graziano Grugni Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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Alessandro Sartorio Istituto Auxologico Italiano, IRCCS, Experimental Laboratory for Auxo-endocrinological Research, Milan and Piancavallo (VB), Italy
Division of Metabolic Diseases, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy
Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo (VB), Italy

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addition, mir-93-5p targets were also enriched in the ‘FGF receptor-signalling’ pathway and ‘insulin receptor-signalling’ pathway ( Fig. 1 ). Since among the 21 miRNAs upregulated in PWS subjects, only five miRNAs (miR-320e, miR-1275, miR-1263g-3p, miR

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0329
Volume/Issue:
Volume 7: Issue 12
Open access
Caroline Nguyen Université de Paris, FHU DDS-Net, Dental School, Paris, France

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Elisabeth Celestin Filière OSCAR, Paris, France

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Delphine Chambolle Association of People with Vitamin-Resistant Hypophosphatemic Rickets, Suresnes, France

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Agnès Linglart Filière OSCAR, Paris, France
Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France

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Martin Biosse Duplan Université de Paris, FHU DDS-Net, Dental School, Paris, France
APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France

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Catherine Chaussain Université de Paris, FHU DDS-Net, Dental School, Paris, France
APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France

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Lisa Friedlander Université de Paris, FHU DDS-Net, Dental School, Paris, France
Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France

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Member States to develop plans and strategies on this topic. X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, and lifelong phosphate-wasting disorder characterized by pathological elevations in fibroblast growth factor (FGF) 23

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0564
Volume/Issue:
Volume 11: Issue 1
Open access
A J Varewijck Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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A J van der Lely Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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S J C M M Neggers Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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S W J Lamberts Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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L J Hofland Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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J A M J L Janssen Erasmus MC, Department of Internal Medicine, Division of Endocrinology, 's-Gravendijkwal 230, Room D-443, 3015 CE Rotterdam, The Netherlands

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B Koeffler HP . Klotho: a tumor suppressor and a modulator of the IGF-1 and FGF pathways in human breast cancer . Oncogene 2008 27 7094 – 7105 . ( doi:10.1038/onc.2008.292 ). 7 Chateau MT Araiz C Descamps S Galas S . Klotho

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0028
Volume/Issue:
Volume 3: Issue 2
Open access
Jiayang Lin Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Peizhen Zhang Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Yan Huang Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Xueyun Wei Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Dan Guo Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Jianfang Liu Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Deying Liu Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Yajuan Deng Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Bingyan Xu Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Chensihan Huang Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Xiaoyu Yang Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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Yan Lu Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China

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Lijing Jia Department of Endocrinology, Shenzhen People’s Hospital, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen, Guangdong, China

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Huijie Zhang Department of Endocrinology and Metabolism, Nanfang Hospital, Southern Medical University, Guangzhou, China

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, increased lipolysis, and hepatic gluconeogenesis ( 7 , 8 , 9 ). Recent advances indicate that altered thyroid status can affect circulating levels of cytokines secreted from the liver, including fetuin A, fibroblast growth factor 21 (FGF21), and neuregulin

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0240
Volume/Issue:
Volume 9: Issue 8
Open access
Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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selection of the genes investigated was based on the PubMed and Orphanet bibliography (ORPHA432 and ORPHA478) and on the OMIM database. The genes investigated in the IHH were GNRHR, GNRH1, KISS1R, KISS1, TACR3, TAC3, ANOS1, FGFR1, FGF8, PROKR2, PROK2, WDR11

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0252
Volume/Issue:
Volume 12: Issue 4
Open access
Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

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Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

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Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

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Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

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2, HESX1, LHX3, LHX4, OTX2, PITX2, ARNT2, DMXL2, FGF8, FGFR1, GPR161, HHIP, IGSF1, KAL1, PROKR2, RNPC3, SHH, SOX2, SOX3 and TGIF1 ( 2 ). Genomic DNA was mechanically fragmented using Covaris. Libraries were constructed using SureSelect Target

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0085
Volume/Issue:
Volume 8: Issue 5
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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addition, this patient was screened for digenic/oligogenic mutations by sequencing additional genes related to the hypothalamic–pituitary–gonadal axis ( KAL1 , FGFR1 , GNRH1 , FGF8 , PROK2 , PROKR2 , KISS1R , CHD7 , TAC3 and TACR3 ) (all primer

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access