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Melissa Braga Department of Internal Medicine, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA

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Zena Simmons Department of Health & Life Sciences, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA

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Keith C Norris Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA

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Monica G Ferrini Department of Internal Medicine, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA
Department of Health & Life Sciences, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA
Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA

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Jorge N Artaza Department of Internal Medicine, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA
Department of Health & Life Sciences, Charles R. Drew University of Medicine and Science, Los Angeles, California, USA
Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA

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-life of 1,25-D 3 , the cell culture media, incubated with or without 1,25-D3 (100 nM), was replaced daily ( 11 , 12 ). Detection of PAX7, VDR and MYC by immunocytochemistry Satellite cells incubated in growth media for 1 day in collagen

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0008
Volume/Issue:
Volume 6: Issue 3
Open access
Ana Carolina de Jesus Paniza Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Thais Biude Mendes Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Matheus Duarte Borges Viana Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Débora Mota Dias Thomaz Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Paula B O Chiappini Department of Pathology, Hospital Heliópolis, São Paulo, Brazil

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Gabriel A Colozza-Gama Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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Susan Chow Lindsey Division of Endocrinology, Department of Medicine, Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil

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Marcos Brasilino de Carvalho Department of Head and Neck Surgery and Otorhinolaryngology, Hospital Heliópolis, São Paulo, Brazil

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Venâncio Avancini Ferreira Alves Department of Pathology, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil

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Otavio Curioni Department of Head and Neck Surgery and Otorhinolaryngology, Hospital Heliópolis, São Paulo, Brazil

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André Uchimura Bastos Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil
Department of Microbiology, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo, Brazil

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Janete Maria Cerutti Division of Genetics, Department of Morphology and Genetics, Genetic Bases of Thyroid Tumors Laboratory, Universidade Federal de São Paulo, São Paulo, Brazil

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of PTC. The subjectivity of the diagnosis has been a challenge for pathologists and a source of high interobserver variability ( 1 , 2 , 7 , 8 , 9 ). Based on the fact that some EFVPTCs have an indolent nature and that some with capsular or

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0459
Volume/Issue:
Volume 8: Issue 11
Open access
Kinnaree Sorapipatcharoen Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Thipwimol Tim-Aroon Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Pat Mahachoklertwattana Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Wasun Chantratita Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Nareenart Iemwimangsa Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Insee Sensorn Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Bhakbhoom Panthan Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Poramate Jiaranai Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Saisuda Noojarern Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Patcharin Khlairit Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Sarunyu Pongratanakul Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chittiwat Suprasongsin Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Manassawee Korwutthikulrangsri Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chutintorn Sriphrapradang Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Preamrudee Poomthavorn Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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c.236C>T (p.Ser79Phe) WT Het 39 9.5 M NBS T 4 8.1 µg/dL (N, 6-15) 7.7 Absent uptake, but present thyroid on USG Permanent PAX8 c.457_458delCT (p.Leu153Glufs*47) WT Het Normal range for FT 4 (ng

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0411
Volume/Issue:
Volume 9: Issue 11
Open access
Anello Marcello Poma Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Riccardo Giannini Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Piaggi National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA

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Clara Ugolini Department of Laboratory Medicine, Section of Pathology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy

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Gabriele Materazzi Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Miccoli Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

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), according to the standard procedures ( 25 ). In addition, the presence of PAX8-PPARG rearrangements (exons 7 and 9) was evaluated by a two-step RT-PCR. Firstly, 600 ng of total RNA were used to synthesize cDNA by the RevertAid First Strand cDNA Synthesis

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0261
Volume/Issue:
Volume 7: Issue 1
Open access
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 Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil

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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 Carlos Chagas Filho Biophysics Institute, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

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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 Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil

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production is mainly regulated by thyroid-stimulating hormone (TSH) action through its binding to the TSH receptor (TSHR) that is expressed in the basolateral membrane of thyrocytes ( 7 ). TH secretion is also stimulated by TSH, which stimulates the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0106
Volume/Issue:
Volume 6: Issue 7
Open access
Ashley N Reeb Department of Otolaryngology, Head and Neck Surgery, Saint Louis University School of Medicine, Saint Louis, Missouri, USA

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Andrea Ziegler Department of Otolaryngology, Head and Neck Surgery, Saint Louis University School of Medicine, Saint Louis, Missouri, USA

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Reigh-Yi Lin Department of Otolaryngology, Head and Neck Surgery, Saint Louis University School of Medicine, Saint Louis, Missouri, USA

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oligonucleotide sequences of the primers for PAX8, TTF1 TSHR, TG, and TPO have been published elsewhere ( 9 , 10 , 11 ). The mRNA levels were quantified in triplicate by quantitative real-time PCR on a ViiA7 PCR System (Applied Biosystems). Human GAPDH was

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0114
Volume/Issue:
Volume 5: Issue 2
Open access
Sneha Arya Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Sandeep Kumar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Anurag R Lila Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India

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Saba Samad Memon Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Rohit Barnabas Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Hemangini Thakkar Department of Radiology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Virendra A Patil Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Nalini S Shah Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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Tushar R Bandgar Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India

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exons 7–10 encode the four zinc fingers of the DNA-binding domain ( 2 ). Pathogenic alterations of this transcription factor cause various disorders of urogenital development. There is a broad phenotypic spectrum with WT1 pathogenic variants

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0289
Volume/Issue:
Volume 10: Issue 12
Open access
Anne Jouinot Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Juliane Lippert Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Martin Fassnacht Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Wuerzburg, Germany

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Bruno de La Villeon Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Amandine Septier Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Mario Neou Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Karine Perlemoine Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France

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Silke Appenzeller Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany

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Mathilde Sibony Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Pathology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Sébastien Gaujoux Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Bertrand Dousset Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Digestive and Endocrine Surgery, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Rossella Libe Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Lionel Groussin Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Cristina L Ronchi Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Wuerzburg, Wuerzburg, Germany
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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Guillaume Assié Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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Jérôme Bertherat Université de Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France
Department of Endocrinology, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France

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tumor stage and proliferation index ( 6 ). Recently, pan-genomic studies have identified molecular subtypes closely associated with prognosis ( 7 , 8 ). A first subtype associates a ‘C1A’ transcriptome profile, characterized by upregulation of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0228
Volume/Issue:
Volume 9: Issue 7
Open access
Chunyun Fu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shiyu Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yingfeng Li Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Qifei Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuehua Hu Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Mengting Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yue Zhang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jiasun Su Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuyun Hu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yun Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jin Wang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Bobo Xie Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jingsi Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xin Fan Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shaoke Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yiping Shen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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on newborn screening programs in Han Chinese, and the incidence of CH was reported as 1:1678 (TSH cutoff level 9 IU/L) and 1:3009 (TSH cutoff level 10–15 IU/L), respectively in Zhejiang ( 6 ) and Shanghai ( 7 ) province. Little is known about the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0289
Volume/Issue:
Volume 6: Issue 8
Open access
P G Murray Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D Hanson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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T Coulson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Stevens Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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A Whatmore Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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R L Poole Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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D J Mackay Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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G C M Black Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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P E Clayton Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

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fleshy lips), prominent heels, normal intelligence and, in some, radiological features (slender long bones and tall vertebral bodies). It is caused by loss of function mutations in the genes encoding cullin 7 ( CUL7 ) (1) , obscurin-like 1 ( OBSL1 ) (2

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0065
Volume/Issue:
Volume 2: Issue 4
Open access