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Isabelle Flechtner Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Magali Viaud Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Dulanjalee Kariyawasam Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Marie Perrissin-Fabert Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Maud Bidet Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Anne Bachelot Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Touraine Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Labrune Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France

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Pascale de Lonlay Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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Michel Polak Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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prospective and retrospective data on puberty, pregnancy, gonadotropic axis status, pelvic morphological description by ultrasound, and the management of infertility in adults with classic galactosemia. The secondary objective was to find predictive factors

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0013
Volume/Issue:
Volume 10: Issue 2
Open access
Sakina Kherra CHU Parnet Hopital, Algiers, Algeria

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Wendy Forsyth Paterson Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

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Filiz Mine Cizmecioglu Paediatric Endocrinology and Diabetes Department, Kocaeli University, Kocaeli, Turkey

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Jeremy Huw Jones Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mariam Kourime Abderrahim Harouchi Hôpital, Casablanca, Morocco

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Heba Hassan Elsedfy Pediatrics Department, Ain Shams University, Cairo, Egypt

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Sameh Tawfik Department of Pediatrics, Maadi Hospital, Cairo, Egypt

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Andreas Kyriakou Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mohamad Guftar Shaikh Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Malcolm David Cairns Donaldson Section of Child Health, Glasgow University School of Medicine, Glasgow, UK

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using the Holm criteria ( 4 ) combined with newly established methylation testing techniques for 15 q analysis ( 16 ). Until 2011, clinical, biochemical, pelvic ultrasound and surgical treatment details on PWS patients were collected on a rolling basis

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0277
Volume/Issue:
Volume 10: Issue 9
Open access
Milène Tetsi Nomigni INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sophie Ouzounian INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Alice Benoit INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Jacqueline Vadrot INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Frédérique Tissier INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sylvie Renouf INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Hervé Lefebvre INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sophie Christin-Maitre INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Estelle Louiset INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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kidney, revealed incidentally on an abdominal ultrasound, with normal renal function. Her menarche occurred at the age of 13. She had regular menses up to the age of 31. Since then, she presented with spaniomenorrhea as her cycles were every 40–50 days

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0014
Volume/Issue:
Volume 4: Issue 2
Open access
Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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were intrascrotal, with a volume of 20 mL, each ( N : 15–20 mL). Testicular ultrasound revealed two testes without any evidence of testicular adrenal rest tumours (TART). No suspect testicular mass was detected. His bone density was normal with a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0306
Volume/Issue:
Volume 7: Issue 3
Open access
Manjeetkaur Sehemby Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Prachi Bansal Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Narayana Medical College, Nellore, Andhra Pradesh, India

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Ashwini Kolhe Department of Pathology, Seth GS Medical college and KEM Hospital, Parel, Mumbai, India

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Kanchan Kothari Department of Pathology, Seth GS Medical college and KEM Hospital, Parel, Mumbai, India

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

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

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

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

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tumors. In a study done by Yan Liu et al ., the sensitivity, specificity and accuracy of combined application of ultrasound and CT were 89, 94.7 and 91.7% ( 16 ), which were higher than those of either ultrasound or CT in the diagnosis of pelvic mass. In

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0360
Volume/Issue:
Volume 7: Issue 12
Open access
Shi-en Fu Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Rou-mei Wang Department of Ultrasonic Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Xing-huan Liang Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Jing Xian Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Jie Pan Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Xue-lan Chen Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Cheng-cheng Qiu Department of Ultrasonic Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Zhi-ping Tang Department of Ultrasonic Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Ying-fen Qin Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Hai-yan Yang Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Li-li Huang Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China
Department of Endocrinology, The Affiliated Hospital of Guilin Medical University, Guilin, China

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Ya-qi Kuang Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Yan Ma Department of Ultrasonic Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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Zuo-jie Luo Department of Endocrinology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China

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), ultrasound (US), and MRI ( 12 , 15 ). Although the gold standards for muscle quantification are MRI and CT, these techniques are expensive and time-consuming (in the case of MRI) or involve radiation exposure (in the case of CT) ( 16 ). MRI is considered the

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0083
Volume/Issue:
Volume 12: Issue 11
Open access
Sara Ahmadi Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Alexandra Coleman Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Nathalie Silva de Morais Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA
Endocrinology Service, Instituto Nacional de Câncer, Rio de Janeiro, Brazil

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Iñigo Landa Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Theodora Pappa Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Alex Kang Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Matthew I Kim Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Ellen Marqusee Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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Erik K Alexander Thyroid Section Brigham & Women’s Hospital & Harvard Medical School, Boston, Massachusetts, USA

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cohort vs 11 of 105 (10.5%) SPECT-CT cohort). In the planar scintigraphy cohort, four (3.7%) of findings were of suspected local metastatic disease confirmed with ultrasound and one (0.9%) suspected distant metastases, while in the ‘SPECT-CT cohort’, five

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0371
Volume/Issue:
Volume 11: Issue 5
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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). Pelvic ultrasonography Transabdominal pelvic ultrasonography was performed at each evaluation at Peking Union Medical College Hospital. The pelvic ultrasonography finding obtained just prior to letrozole initiation was used as the baseline. Subjects who

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0344
Volume/Issue:
Volume 7: Issue 12
Open access
Jülide Durmuşoğlu Division of Endocrinology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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Henri J L M Timmers Division of Endocrinology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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Pepijn van Houten Division of Endocrinology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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Johan F Langenhuijsen Department of Urology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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Ad R M M Hermus Division of Endocrinology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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Annenienke C van de Ven Division of Endocrinology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

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. Patients were classified to have a deep venous thrombosis when diagnosis was confirmed by duplex ultrasound of the leg. Patients were considered to have a pulmonary embolism when this diagnosis was confirmed by spiral CT or autopsy. The presence of symptoms

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0299
Volume/Issue:
Volume 9: Issue 9
Open access
Renata C Scalco Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
Disciplina de Endocrinologia, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, São Paulo, Brazil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Ericka B Trarbach Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Edoarda V A Albuquerque Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Thais K Homma Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Thais H Inoue-Lima Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Mirian Y Nishi Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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Alexander A L Jorge Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil

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for height and breast development (according to Tanner staging), pelvic ultrasound for assessment of uterine volume, and dual-energy X-ray absorptiometry (DEXA) for determination of bone mineral density at lumbar spine and proximal femur. Since DEXA

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0398
Volume/Issue:
Volume 8: Issue 11
Open access