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Alice Costantini Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

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Mari H Muurinen Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland

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Outi Mäkitie Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden

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Introduction Genetic skeletal diseases, often called skeletal dysplasias, are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0083
Volume/Issue:
Volume 10: Issue 5
Open access
Cristina Lamas Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario de Albacete, Albacete, Spain

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Elena Navarro Department of Endocrinology and Nutrition, Hospital Universitario Virgen del Rocío, Sevilla, Spain

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Anna Casterás Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

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Paloma Portillo Department of Endocrinology and Nutrition, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain

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Victoria Alcázar Department of Endocrinology and Nutrition, Hospital Universitario Severo Ochoa, Leganés, Spain

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María Calatayud Department of Endocrinology and Nutrition, Hospital Univeristario Doce de Octubre, Madrid, Spain

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Cristina Álvarez-Escolá Department of Endocrinology and Nutrition, Hospital Universitario La Paz, Madrid, Spain

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Julia Sastre Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

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Evangelina Boix Department of Endocrinology and Nutrition, Hospital General Universitario de Elche, Elche, Spain

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Lluis Forga Department of Endocrinology and Nutrition, Complejo Hospitalario de Navarra, Hospital de Navarra, Pamplona, Spain

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Almudena Vicente Department of Endocrinology and Nutrition, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Toledo, Spain

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Josep Oriola Biochemistry and Molecular Genetics Department, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain

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Jordi Mesa Department of Endocrinology and Nutrition, Hospital Vall d’Hebron, Barcelona, Spain

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Nuria Valdés Department of Endocrinology and Nutrition, Hospital Universitario Central de Asturias, Oviedo, Spain

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manifestation: most carriers of a MEN1 mutation will have developed PHPT by age 50 years. It is also the first clinical manifestation, usually diagnosed before 30 years of age, and bone and renal complications are common. However, not many clinical studies

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0321
Volume/Issue:
Volume 8: Issue 10
Open access
Mohammed S Razzaque Department of Pathology, Lake Erie College of Osteopathic Medicine, Erie, Pennsylvania, USA

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of FGF23 and renal induction of αKlotho by vitamin D forms a kidney–bone axis. Figure 2 Simplified diagram illustrating various factors that can directly or indirectly influence FGF23 activities. Feedback control of FGF23 exists with phosphate

Article Type:
Review Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-22-0239
Volume/Issue:
Volume 11: Issue 10
Open access
Shatha Alharazy Department of Physiology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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M Denise Robertson Department of Nutritional Sciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, UK

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Susan Lanham-New Department of Nutritional Sciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, UK

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Muhammad Imran Naseer Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia

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Adeel G Chaudhary Centre of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
Centre for Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Eman Alissa Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Introduction Vitamin D plays an important role in numerous human metabolic functions including calcium (Ca) and phosphorus (PO 4 ) hemostasis and bone growth and remodeling ( 1 , 2 ). vitamin D stimulates Ca and PO 4 absorption from the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0445
Volume/Issue:
Volume 10: Issue 12
Open access
Xi Wang Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

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Qi Yu Department of Obstetrics and Gynaecology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

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/1,000,000 ( 1 , 2 ). MAS is defined historically as the triad of peripheral precocious puberty (PP), café-au-lait skin pigmentation and fibrous dysplasia (FD) of the bone ( 3 ). Other associated hyperfunctioning endocrinopathies include hyperthyroidism, growth

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0344
Volume/Issue:
Volume 7: Issue 12
Open access
Pinaki Dutta
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Bhuvanesh Mahendran Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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K Shrinivas Reddy Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Jasmina Ahluwalia Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Kim Vaiphei Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Rakesh K Kochhar Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Prakamya Gupta Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Anand Srinivasan Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Mahesh Prakash Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Kanchan Kumar Mukherjee Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Viral N Shah
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Girish Parthan
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Anil Bhansali
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acquaintance with Jamer's dynamometer and an average of three measurements was taken as the final reading as kilogram force. Bone mineral content (BMC), bone mineral density (BMD), total body fat (TBF), and lean body mass (LBM) were calculated by dual-energy X

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0132
Volume/Issue:
Volume 4: Issue 1
Open access
A Gizard Department of Pediatric Orthopedic Surgery, Besançon University Hospital, Paris, France

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A Rothenbuhler APHP, Department of Pediatric Endocrinology, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France

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Z Pejin APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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G Finidori APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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C Glorion APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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B de Billy Department of Pediatric Orthopedic Surgery, Besançon University Hospital, Paris, France

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A Linglart APHP, Department of Pediatric Endocrinology, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, Le Kremlin Bicêtre, France

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P Wicart Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France

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). The PHEX protein is expressed in the mineralized tissues, i.e. the bone matrix and the teeth. When PHEX is impaired, fibroblast growth factor 23 (FGF23) is produced in excess, leading to renal phosphate wasting and insufficient production of 1,25(OH)2

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0154
Volume/Issue:
Volume 6: Issue 8
Open access
Claus H Gravholt Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

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Alberto Ferlin Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy

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Joerg Gromoll Centre of Reproductive Medicine and Andrology, Münster, Germany

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Anders Juul Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark

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Armin Raznahan Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA

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Sophie van Rijn Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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Nicole Tartaglia Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA

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Hanna Swaab Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands

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changes, like histone and chromatin modifications, also need to be addressed. In addition, an understanding of the temporal changes from fetal life to old age needs to be achieved. Klinefelter syndrome, hypogonadism, bone, muscle and fat

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access
Mieke Van Hemelrijck
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Thurkaa Shanmugalingam
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Cecilia Bosco
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Wahyu Wulaningsih
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Sabine Rohrmann Cancer Epidemiology Group, Division of Chronic Disease Epidemiology, Division of Cancer Studies, King's College London, London, UK

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bone resorption and bone formation (11) , thus also suggesting a potential interaction between calcium and IGF1 in terms of bone metabolism (11) . Circulating levels of IGF1 have been associated with milk and calcium intake (6, 12, 13) . For instance

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0039
Volume/Issue:
Volume 4: Issue 3
Open access
Vickie Braithwaite Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK

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Kerry S Jones Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK
Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK

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Shima Assar Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK

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Inez Schoenmakers Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK

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Ann Prentice Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK
Medical Research Council (MRC) Human Nutrition Research, MRC Keneba, Elsie Widdowson Laboratories, Fulbourn Road, Cambridge CB1 9NL, UK

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community (2) . FGF23 is a bone-derived phosphate (P)-regulating hormone that acts primarily in the proximal tubule cells of the kidney. A raised FGF23 concentration is a predictor of mortality in patients with renal failure (3) . FGF23 together with its

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0070
Volume/Issue:
Volume 3: Issue 1
Open access