Kinnaree Sorapipatcharoen
Kinnaree Sorapipatcharoen
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Thipwimol Tim-Aroon
Thipwimol Tim-Aroon
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Pat Mahachoklertwattana
Pat Mahachoklertwattana
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Wasun Chantratita
Wasun Chantratita
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Nareenart Iemwimangsa
Nareenart Iemwimangsa
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Insee Sensorn
Insee Sensorn
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Bhakbhoom Panthan
Bhakbhoom Panthan
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Poramate Jiaranai
Poramate Jiaranai
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Saisuda Noojarern
Saisuda Noojarern
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Patcharin Khlairit
Patcharin Khlairit
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Sarunyu Pongratanakul
Sarunyu Pongratanakul
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Chittiwat Suprasongsin
Chittiwat Suprasongsin
Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Manassawee Korwutthikulrangsri
Manassawee Korwutthikulrangsri
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Chutintorn Sriphrapradang
Chutintorn Sriphrapradang
Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Preamrudee Poomthavorn
Preamrudee Poomthavorn
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Introduction Congenital primary hypothyroidism (CH) is classified into thyroid dysgenesis (TD) and thyroid dyshormonogenesis (TDH) ( 1 ). TDH has increasingly been reported while the incidence of TD has remained stable ( 2 , 3 ). Genetic
Avinaash Maharaj
Avinaash Maharaj
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Kwong
Ruth Kwong
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Jack Williams
Jack Williams
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Christopher Smith
Christopher Smith
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Helen Storr
Helen Storr
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Ruth Krone
Ruth Krone
Birmingham Children’s Hospital, Birmingham, UK
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Debora Braslavsky
Debora Braslavsky
Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina
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Maria Clemente
Maria Clemente
Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
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Nanik Ram
Nanik Ram
Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan
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Indraneel Banerjee
Indraneel Banerjee
Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK
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Semra Çetinkaya
Semra Çetinkaya
Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey
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Federica Buonocore
Federica Buonocore
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Tülay Güran
Tülay Güran
Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey
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John C Achermann
John C Achermann
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK
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Louise Metherell
Louise Metherell
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Rathi Prasad
Rathi Prasad
Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK
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Adrenal disease, primary gonadal insufficiency and primary hypothyroidism are present variably in 38 SPLIS patients with endocrinopathy. Table 1 Published SPLIS adrenal clinical phenotype (patients 1–37). Pt no. SGPL1 pathogenic
Luca Persani
Luca Persani
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Biagio Cangiano
Biagio Cangiano
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Marco Bonomi
Marco Bonomi
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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some CeH patients with a predominant hypothalamic defect. In this subgroup of patients, TSH levels are superimposable to those generally found in subclinical or mild primary hypothyroidism, although the molecule is devoid of full biological activity and
Caroline Serrano-Nascimento
Caroline Serrano-Nascimento
Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
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Rafael Barrera Salgueiro
Rafael Barrera Salgueiro
Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
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Kaio Fernando Vitzel
Kaio Fernando Vitzel
Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
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Thiago Pantaleão
Thiago Pantaleão
Carlos Chagas Filho Biophysics Institute, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
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Vânia Maria Corrêa da Costa
Vânia Maria Corrêa da Costa
Carlos Chagas Filho Biophysics Institute, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
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Maria Tereza Nunes
Maria Tereza Nunes
Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
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induces maternal primary hypothyroidism by the impairment of TH production, secretion and peripheral metabolism. The data presented herein clearly indicated that IE exposure during pregnancy and lactation reduces TH serum levels in rat dams. This result
Ghazala Zaidi
Ghazala Zaidi
Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Vijayalakshmi Bhatia
Vijayalakshmi Bhatia
Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Saroj K Sahoo
Saroj K Sahoo
Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Aditya Narayan Sarangi
Aditya Narayan Sarangi
Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Niharika Bharti
Niharika Bharti
Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Li Zhang
Li Zhang
Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA
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Liping Yu
Liping Yu
Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA
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Daniel Eriksson
Daniel Eriksson
Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
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Sophie Bensing
Sophie Bensing
Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
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Olle Kämpe
Olle Kämpe
Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden
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Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden
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Nisha Bharani
Nisha Bharani
Department of Endocrinology, Amrita Institute of Medical Sciences, Kochi, India
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Surendra Kumar Yachha
Surendra Kumar Yachha
Departments of Paediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Anil Bhansali
Anil Bhansali
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
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Alok Sachan
Alok Sachan
Department of Endocrinology, Sri Venkateshwara Institute of Medical Sciences, Tirupathi, India
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Vandana Jain
Vandana Jain
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
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Nalini Shah
Nalini Shah
Department of Endocrinology, King Edward Memorial Hospital, Seth GS Medical College, Mumbai, India
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Rakesh Aggarwal
Rakesh Aggarwal
Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Amita Aggarwal
Amita Aggarwal
Departments of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Muthuswamy Srinivasan
Muthuswamy Srinivasan
Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Sarita Agarwal
Sarita Agarwal
Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Eesh Bhatia
Eesh Bhatia
Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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manifestations each: MCC, HP ( n = 2); HP, PAI ( n = 1) Type 1 diabetes mellitus (T1DM) 1 (4.5) Primary hypothyroidism (HT) 1 (4.5) Diarrhoea 1 (4.5) Age at diagnosis (years): MCC 5 (0.1–19) HP 5 (0
Marcus Heldmann
Marcus Heldmann
Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany
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Department of Psychology II, University of Lübeck, Lübeck, Germany
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Krishna Chatterjee
Krishna Chatterjee
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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Carla Moran
Carla Moran
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK
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Berenike Rogge
Berenike Rogge
Department of Neurology, University of Lübeck, Lübeck, Germany
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Julia Steinhardt
Julia Steinhardt
Department of Neurology, University of Lübeck, Lübeck, Germany
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Tobias Wagner-Altendorf
Tobias Wagner-Altendorf
Department of Neurology, University of Lübeck, Lübeck, Germany
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Martin Göttlich
Martin Göttlich
Department of Neurology, University of Lübeck, Lübeck, Germany
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Hannes Schacht
Hannes Schacht
Department of Neuroradiology, University of Lübeck, Lübeck, Germany
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Peter Schramm
Peter Schramm
Department of Neuroradiology, University of Lübeck, Lübeck, Germany
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Georg Brabant
Georg Brabant
Department of Internal Medicine I, University of Lübeck, Lübeck, Germany
Department of Endocrinology, The Christie, University of Manchester, Manchester, UK
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Department of Endocrinology, The Christie, University of Manchester, Manchester, UK
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Thomas F Münte
Thomas F Münte
Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany
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Department of Psychology II, University of Lübeck, Lübeck, Germany
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Anna Cirkel
Anna Cirkel
Department of Neurology, University of Lübeck, Lübeck, Germany
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through TRβ2, which is predominantly expressed in the pituitary gland and hypothalamus ( 5 ). It is known that longstanding, untreated primary hypothyroidism may lead to pituitary enlargement due to thyrotrophic hyperplasia. Thyroid-stimulating hormone
Ichelle Maa van Roessel
Ichelle Maa van Roessel
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Boudewijn Bakker
Boudewijn Bakker
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Hanneke M van Santen
Hanneke M van Santen
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, AB Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, AB Utrecht, The Netherlands
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Wassim Chemaitilly
Wassim Chemaitilly
Division of Pediatric Endocrinology, UPMC Children’s Hospitalof Pittsburgh, Pittsburgh, Pennsylvania, USA
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hormone replacement Hypothyroidism is among the most common endocrine complications after treatment for childhood cancer and brain tumors. CCS have an increased risk for both primary and central hypothyroidism ( 29 ). Primary hypothyroidism is defined by
Aasem Saif
Aasem Saif
Internal Medicine Department, Cairo University, Cairo, Egypt
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Shrook Mousa
Shrook Mousa
Internal Medicine Department, Cairo University, Cairo, Egypt
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Maha Assem
Maha Assem
Internal Medicine Department, Cairo University, Cairo, Egypt
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Nashwa Tharwat
Nashwa Tharwat
National Nutrition Institute, Cairo, Egypt
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Alaa Abdelhamid
Alaa Abdelhamid
Internal Medicine Department, Cairo University, Cairo, Egypt
Vascular Laboratory, Cairo University, Cairo, Egypt
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Vascular Laboratory, Cairo University, Cairo, Egypt
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other than dyslipidemia. In our study CIMT was significantly higher in patients with overt hypothyroidism as compared with the control group ( P < 0.001). Cakal et al . have similarly demonstrated higher CIMT in primary hypothyroid patients. They
Laura van Iersel
Laura van Iersel
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
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Sarah C Clement
Sarah C Clement
Department of Pediatrics, Amsterdam University Medical Center, location VU University Medical Center, Amsterdam, The Netherlands
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Antoinette Y N Schouten-van Meeteren
Antoinette Y N Schouten-van Meeteren
Department of Pediatric Oncology, Emma Children’s Hospital, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Annemieke M Boot
Annemieke M Boot
Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
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Hedi L Claahsen-van der Grinten
Hedi L Claahsen-van der Grinten
Department of Pediatric Endocrinology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands
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Bernd Granzen
Bernd Granzen
Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands
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K Sen Han
K Sen Han
Department of Neurosurgery, University Medical Center Utrecht, Utrecht, The Netherlands
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Geert O Janssens
Geert O Janssens
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Radiation Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Department of Radiation Oncology, University Medical Center Utrecht, Utrecht, The Netherlands
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Erna M Michiels
Erna M Michiels
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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A S Paul van Trotsenburg
A S Paul van Trotsenburg
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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W Peter Vandertop
W Peter Vandertop
Neurosurgical Center Amsterdam, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam and location VU University Medical Center, Amsterdam, The Netherlands
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Dannis G van Vuurden
Dannis G van Vuurden
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Pediatric Oncology/Hematology, Amsterdam University Medical Center, location VU University Medical Center, Amsterdam, The Netherlands
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Department of Pediatric Oncology/Hematology, Amsterdam University Medical Center, location VU University Medical Center, Amsterdam, The Netherlands
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Hubert N Caron
Hubert N Caron
Department of Pediatric Oncology, Emma Children’s Hospital, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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Leontien C M Kremer
Leontien C M Kremer
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, location Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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Hanneke M van Santen
Hanneke M van Santen
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
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irradiation, we limited the interference of thyroidal dysfunction on thyroid function parameters by excluding all patients with overt primary or subclinical (primary) hypothyroidism, as defined below ( n = 39). In addition, patients with HPDs before receiving
Ewa Stogowska
Ewa Stogowska
Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland
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Karol Adam Kamiński
Karol Adam Kamiński
Department of Population Medicine and Civilization Diseases Prevention, Medical University of Bialystok, Bialystok, Poland
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Bartosz Ziółko
Bartosz Ziółko
Techmo, Kraków, Poland
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Irina Kowalska
Irina Kowalska
Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland
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, named, respectively, hypothyroidism or hyperthyroidism. The primary hypothyroidism is a result of thyroid hormone deficiency with the simultaneous correct hypothalamus–pituitary axis function and its prevalence is calculated as around 3–5% in the
