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Ravikumar Shah Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Anurag R Lila Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Ramteke-Swati Jadhav Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Virendra Patil Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Abhishek Mahajan Department of Radiodiagnosis and Imaging, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Sushil Sonawane Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Puja Thadani Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Anil Dcruz Department of Head Neck Surgery, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Prathamesh Pai Department of Head Neck Surgery, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Munita Bal Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Subhada Kane Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India

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Nalini Shah Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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Tushar Bandgar Department of Endocrinology, Seth GS Medical College & KEM Hospital, Parel, Mumbai, India

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eventually result in osteomalacia. Due to its rarity, the diagnosis of TIO is delayed with the average time from onset of symptoms to diagnosis being more than 2.5 years ( 1 ). As a result, patients often present in a debilitated state with multiple fractures

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0341
Volume/Issue:
Volume 8: Issue 10
Open access
Liubov G Yanevskaya Almazov National Medical Research Centre, St. Petersburg, Russia

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Tatiana Karonova Almazov National Medical Research Centre, St. Petersburg, Russia
First Pavlov State Medical University, St. Petersburg, Russia

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Ilya V Sleptsov Saint-Petersburg State University N.I. Pirogov Clinic of High Medical Technologies, St. Petersburg, Russia

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Marina Evgenevna Boriskova First Pavlov State Medical University, St. Petersburg, Russia

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Aluza Ramilevna Bakhtiyarova Almazov National Medical Research Centre, St. Petersburg, Russia

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Roman A Chernikov Saint-Petersburg State University N.I. Pirogov Clinic of High Medical Technologies, St. Petersburg, Russia

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Karina Aleksandrovna Pogosian Almazov National Medical Research Centre, St. Petersburg, Russia

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Alena Timurovna Andreeva Almazov National Medical Research Centre, St. Petersburg, Russia

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Denis Andreevich Lebedev Almazov National Medical Research Centre, St. Petersburg, Russia

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Elena Nikolaevna Grineva Almazov National Medical Research Centre, St. Petersburg, Russia
First Pavlov State Medical University, St. Petersburg, Russia

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John P Bilezikian College of Physicians and Surgeons, Columbia University, New York, New York, USA

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first case of the fragility fracture, (iv) the first renal colic associated with urolithiasis. The duration was calculated until the last surgery related visit. PHPT was diagnosed by laboratory tests (elevated iPTH, high or normal level of serum total or

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0515
Volume/Issue:
Volume 10: Issue 2
Open access
Souad Daamouch Department of Medicine III and Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

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Sylvia Thiele Department of Medicine III and Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

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Lorenz Hofbauer Department of Medicine III and Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

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Martina Rauner Department of Medicine III and Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany

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Introduction Osteoporosis is a major health burden worldwide, causing 8.9 million fractures per year ( 1 ). The increased risk of fractures primarily affects older people ( 2 ) and postmenopausal women ( 3 ) and is often associated with poor

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-23-0251
Volume/Issue:
Volume 12: Issue 11
Open access
Lukas Ochsner Ridder Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Agnethe Berglund Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Kirstine Stochholm Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark

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Simon Chang Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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syndrome are some factors that potentially decrease BMD. A Danish registry study found an eight-fold increased risk of osteoporosis and a 1.4-fold increased risk of fractures ( 8 ). Assessing BMD using high-resolution peripheral quantitative computed

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Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0024
Volume/Issue:
Volume 12: Issue 5
Open access
Yuan Liu Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Siyi Guo Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Jinsong Wu Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Rongai Wang Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Health Management Center, The Second Affiliated Hospital of Zhejiang Chinese Medicine University, Zhejiang, China

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Jinbo Liu Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Yan Liu Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Bin Lv Department of Thyroid Surgery, General Surgery, Qilu Hospital of Shandong University, Jinan, China

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Nan Liu Department of Thyroid Surgery, General Surgery, Qilu Hospital of Shandong University, Jinan, China

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Ling Jiang Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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Xiaoli Zhang Department of Endocrinology, Qilu Hospital of Shandong University, Jinan, China
Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan, China
Key Laboratory of Endocrine and Metabolic Diseases, Shandong Province Medicine & Health, Jinan, China

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by hypercalcemia. Typical symptoms are mainly musculoskeletal (bone pain, fracture), urological (urolithiasis, polyuria, and hematuria), gastrointestinal (nausea, vomiting, and loss of appetite), and neuropsychiatric (fatigue, dizziness, and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0382
Volume/Issue:
Volume 10: Issue 11
Open access
Charissa van Zwol-Janssens Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Aglaia Hage Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Kim van der Ham Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Birgitta K Velthuis Department of Radiology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands

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Ricardo P J Budde Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands

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Maria P H Koster Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Arie Franx Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Bart C J M Fauser Department of Reproductive Medicine and Gynaecology, University Medical Center Utrecht & University of Utrecht, Utrecht, the Netherlands

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Eric Boersma Department of Cardiology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Daniel Bos Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Joop S E Laven Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Yvonne V Louwers Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, the Netherlands

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the CREW consortium
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the CREW consortium

hypogonadism and HRT use, type of HRT use, vitamin D status, estrogen, and androgen levels, history of bone fractures and family history of osteoporosis. Furthermore, in addition to the lack of a healthy control group in our study, there is also no population

Article Type:
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Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0166
Volume/Issue:
Volume 12: Issue 11
Open access
Ananda A Santana-Ribeiro Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil

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Giulliani A Moreira-Brasileiro Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil

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Manuel H Aguiar-Oliveira Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Vitor O Carvalho Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil

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Claudia K Alvim-Pereira Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil

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Carlos R Araújo-Daniel Department of Statistic and Actuarial Sciences, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Júlia G Reis-Costa Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil

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Alana L Andrade-Guimarães Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil

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Alécia A Oliveira-Santos Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil

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Edgar R Vieira Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA

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Miburge B Gois-Junior Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA

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, farming and domestic work ( 13 ). Although these subjects report higher prevalence of dizziness ( 14 ), they are not prone to fractures even at advanced ages ( 15 ). They also have normal quality of life ( 16 ) and longevity ( 17 ). Recently, we have shown

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0103
Volume/Issue:
Volume 8: Issue 4
Open access
Matteo Scopel Medical Clinic III, Department of Medicine (DIMED), University Hospital of Padua, Padua, Italy

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Eugenio De Carlo Medical Clinic III, Department of Medicine (DIMED), University Hospital of Padua, Padua, Italy

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Francesca Bergamo Unit of Medical Oncology 1, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy

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Sabina Murgioni Unit of Medical Oncology 1, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy

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Riccardo Carandina Radiodiagnostic Unit, University Hospital of Padua, Padua, Italy

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Anna Rita Cervino Radiotherapy and Nuclear Medicine Unit, Istituto Oncologico Veneto IOV-IRCCS, Padua, Italy

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Marta Burei Radiotherapy and Nuclear Medicine Unit, Istituto Oncologico Veneto IOV-IRCCS, Padua, Italy

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Federica Vianello Radiotherapy and Nuclear Medicine Unit, Istituto Oncologico Veneto IOV-IRCCS, Padua, Italy

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Vittorina Zagonel Unit of Medical Oncology 1, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy

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Matteo Fassan Surgical Pathology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Roberto Vettor Medical Clinic III, Department of Medicine (DIMED), University Hospital of Padua, Padua, Italy

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, spinal compression, pathologic fractures and hypercalcemia ( 7 , 9 ). In recent years, a growing interest has been directed to the prevention, diagnosis and treatment of them, and despite this, the data in this regard are still scarce. Our aim was to

Article Type:
Research Article
Collections:
Hormones and Cancer
DOI:
https://doi.org/10.1530/EC-21-0568
Volume/Issue:
Volume 11: Issue 7
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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found diminished bone mineral density (BMD) and increased risk of vertebral fractures in subjects with Klinefelter syndrome ( 18 , 19 , 20 ). Testosterone replacement therapy (TRT) increases BMD in men with Klinefelter syndrome ( 21 , 22 ), but there

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0500
Volume/Issue:
Volume 12: Issue 3
Open access
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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, autosomal dominant; AR, autosomal recessive; IP, inheritance pattern; NA, not available; SMD, spondylometaphyseal dysplasia; SEMD, spondyloepimetaphyseal dysplasia; XLR, X-linked recessive. Defects in fibronectin-1 cause SMD-corner fracture

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0083
Volume/Issue:
Volume 10: Issue 5
Open access