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Lars C. Moeller Department of Endocrinology and Metabolism, University of Duisburg-Essen, Essen, Germany

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Yaw Appiagyei-Dankah Medical University of South Carolina, Charleston, S.C., USA

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Birgit Köhler Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Heike Biebermann Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, Berlin, Germany

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Onno E. Janssen Department of Endocrinology and Metabolism, University of Duisburg-Essen, Essen, Germany

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Dagmar Führer Department of Endocrinology and Metabolism, University of Duisburg-Essen, Essen, Germany

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in the Serpina7 gene leading to TBG-CD have been described. Here, we report two novel mutations associated with TBG-CD, a donor splice site mutation found in a boy from Andrews, S.C., USA, and a 79-nucleotide deletion in a boy from Berlin, Germany

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000381093
Volume/Issue:
Volume 4: Issue 1_Suppl
Free access
Theodora Pappa Departments of Medicine, Chicago, IL, USA

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Lars C. Moeller Department of Endocrinology and Division of Laboratory Research, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

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Deborah V. Edidin Department of Pediatrics, Feinberg School of Medicine Northwestern University, Chicago, IL, USA

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Silvana Pannain Departments of Medicine, Chicago, IL, USA

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Samuel Refetoff Departments of Medicine, Chicago, IL, USA
Departments of Pediatrics, Chicago, IL, USA
Departments of Committee on Genetics, The University of Chicago, Chicago, IL, USA

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the medium was measured [ 6 ]. Results The probands of both families were found to harbor a missense mutation in the TBG gene, namely a single nucleotide substitution in exon 2 (T to G), codon 215. This mutation resulted in the replacement

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000455097
Volume/Issue:
Volume 6: Issue 3
Free access
Francesca Carlomagno Dipartimento di Biologia e Patologia Cellulare e Molecolare L. Califano, Università degli Studi di Napoli Federico II, Napoli, Italia

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of the RET gene have been identified in two different types of thyroid neoplasia: medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma. RET Mutations in MTC: A New Target for Cancer Treatment MTC arises from neural crest

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000336975
Volume/Issue:
Volume 1: Issue 1
Free access
Min Ren Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianlan Yao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Longlong Bao Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Zhiting Wang Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Ran Wei Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Qianming Bai Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Bo Ping Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Cai Chang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China

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Yu Wang Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China

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Xiaoyan Zhou Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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Xiaoli Zhu Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

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libraries were prepared using the thyroid cancer multigene panel (RigenBio) according to the manufacturer’s instructions. The thyroid cancer NGS panel is a multiplex PCR-based NGS test for point mutations and insertions/deletions of 22 related genes ( AKT1

Article Type:
Research Article
Collections:
Genetics and omics in thyroidology
DOI:
https://doi.org/10.1530/ETJ-21-0124
Volume/Issue:
Volume 11: Issue 3
Open access
R. Elisei Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

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M. Alevizaki Endocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece

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B. Conte-Devolx Department of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France

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K. Frank-Raue Endocrine Practice, Molecular Laboratory, Heidelberg, Germany

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V. Leite Department of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal

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G.R. Williams Molecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK

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suggestive of a hereditary form (QOE = +++; SOR = score 1). (b) If the diagnosis of MTC is made preoperatively, apparently sporadic MTC patients must be investigated for the presence of RET gene mutations (see the following paragraph) and, if positive

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: Issue 4
Free access
Alies A. van Mullem Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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Theo J. Visser Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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Robin P. Peeters Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands

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hypothyroidism than wild-type hypothyroid mice due to the suppressive effect of unliganded TRs, in particular TRα1, on (positively regulated) gene transcription [ 14 , 15 , 16 ]. Mice with heterozygous TRα1 mutations are viable and have a heterogeneous phenotype

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000360637
Volume/Issue:
Volume 3: Issue 1
Free access
Elen Dias Accordi Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Paraskevi Xekouki Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Bruna Azevedo Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Rodrigo Bertollo de Alexandre Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Carla Frasson Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba
Álvaro Center for Analysis and Clinical Research - Diagnósticos da América (DASA), Cascavel, Brazil

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Siliane Marie Gantzel Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Georgios Z. Papadakis Department of Radiology and Imaging Sciences, Clinical Center, National Institutes of Health (NIH), Bethesda, Md., USA

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Anna Angelousi Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Constantine A. Stratakis Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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Vanessa Santos Sotomaior Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba

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Fabio R. Faucz Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba
Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

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]. Mutations in genes coding for the different subunits of succinate dehydrogenase (SDHx) have also been associated with the development of thyroid cancer [ 12 , 13 ]. SDH or complex II is a heterotetrameric protein composed of two hydrophilic catalytic

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000444522
Volume/Issue:
Volume 5: Issue 2
Free access
Tiziana de Filippis Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Federica Marelli Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

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Maria Cristina Vigone Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Marianna Di Frenna Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Giovanna Weber Department of Pediatrics, Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy

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Luca Persani Laboratory of Endocrine and Metabolic Research, Milan, Italy
Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Introduction In humans, heterozygous loss-of-function mutations in NKX2-1 gene (OMIM #600635) have been reported to cause a complex phenotype called brain-lung-thyroid (BLT) syndrome (OMIM #610978) [ 1 , 2 , 3 , 4 , 5 , 6 , 7 ]. The BLT

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000366274
Volume/Issue:
Volume 3: Issue 4
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João Anselmo Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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Carolina M. Chaves Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal

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levels of TH in mothers with resistance to thyroid hormone beta (RTHβ). This dominantly inherited disorder is characterized by reduced responsiveness to TH caused by mutations of the THRB gene. Affected individuals are mostly asymptomatic despite high

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000506423
Volume/Issue:
Volume 9: Issue 3
Free access
Sule Canberk Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal

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Joana C. Ferreira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Luísa Pereira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Rui Batısta Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Andre F. Vieira Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal

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Paula Soares Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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Manuel Sobrinho Simões Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal
Abel Salazar Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal
Department of Pathology and Oncology, Centro Hospitalar São João, Porto, Portugal

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Valdemar Máximo Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal
Department of Pathology, Faculty of Medicine of the University of Porto (FMUP), Porto, Portugal

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highlighted the presence of thyroid lesions in this setting. Later, Rio Frio et al. [ 9 ] identified 5 different heterozygous mutations in the DICER1 gene in 5 families showing autosomal dominant MNG, with or without Sertoli-Leydig cell tumours. Their

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509183
Volume/Issue:
Volume 9: Issue 6
Free access