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Anna-Pauliina Iivonen Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Johanna Känsäkoski Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Kirsi Vaaralahti Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

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Taneli Raivio Institute of Biomedicine/Physiology, Biomedicum Helsinki and Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland
New Children’s Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland

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results from mutations affecting GnRH signaling, whereas in the case of KS, development of the olfactory system along with the development and/or migration of the GnRH neurons are disrupted ( 1 , 3 ). These diseases have great phenotypic and genetic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0080
Volume/Issue:
Volume 8: Issue 5
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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gland, and its activation induces LH and FSH secretion ( 5 ). GNRHR mutations explain about 3.5–16% of sporadic cases and up to 40% of familial cases of nCHH ( 6 ). Inheritance is autosomal recessive and patients usually have homozygous or compound

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Mahmoud Al-Masri Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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Tawfiq Al-Shobaki Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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Hani Al-Najjar Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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Rafal Iskanderian Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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Enas Younis Department of Internal Medicine, Endocrine, King Hussein Cancer Center, Amman, Jordan

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Niveen Abdallah Department of Cell Therapy & Applied Genomics, King Hussein Cancer Center, Amman, Jordan

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Abdelghani Tbakhi Department of Cell Therapy & Applied Genomics, King Hussein Cancer Center, Amman, Jordan

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Hussam Haddad Department of Pathology & Laboratory Medicine, King Hussein Cancer Center, Amman, Jordan

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Mohammad Al-Masri School of Medicine, University of Jordan, Amman, Jordan

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Zeinab Obeid Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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Awad Jarrar Department of Surgery, King Hussein Cancer Center, Amman, Jordan

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stage of the disease. However, the role of associated gene mutations on these parameters is unclear. The majority of PTC are clinically inert with simple genetic makeup harbouring a few copy-number modifications. In terms of whole-exome sequencing, PTC

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0410
Volume/Issue:
Volume 10: Issue 12
Open access
Huy Gia Vuong Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam

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Uyen N P Duong Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam

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Ahmed M A Altibi Faculty of Medicine, University of Jordan, Amman, Jordan

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Hanh T T Ngo Department of Pathology, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam

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Thong Quang Pham Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam

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Hung Minh Tran Faculty of Medicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam

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Greta Gandolfi Laboratory of Translational Research, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy

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Lewis Hassell Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

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pathogenesis in PTC. Several genetic alterations have been described in PTC ( 4 ). Among them, BRAF mutation, especially BRAF V600E , is the most common mutation in PTC; however, its prognostic role in PTC is still debated ( 5 , 6 , 7 ). Another recently

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0010
Volume/Issue:
Volume 6: Issue 3
Open access
Nathalia Liberatoscioli Menezes Andrade Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Mariana Ferreira de Assis Funari Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexsandra Christianne Malaquias Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Paulo Ferrez Collett-Solberg Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil

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Nathalia L R A Gomes Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Renata Scalco Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Naiara Castelo Branco Dantas Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Raissa C Rezende Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Angelica M F P Tiburcio Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Micheline A R Souza Serviço de Endocrinologia do Instituto de Puericultura e Pediatria Martagao Gesteira/Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil

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Bruna L Freire Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Ana C V Krepischi Centro de Pesquisa em Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de Sao Paulo, São Paulo, Brasil

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Carlos Alberto Longui Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Antonio Marcondes Lerario Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Gabriela Andrade Vasques Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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, one in CBL gene, one in PTPN11 , one in BRAF ). In addition, we observed an allelic imbalance suggesting mosaicism in one NF1de novo mutation ( Tables 2 and 3 ). Three CNVs were heterozygous deletions related to the SHOX gene, and one is a

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0214
Volume/Issue:
Volume 11: Issue 12
Open access
Lijuan Yuan Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China
Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Xihui Chen Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Ziyu Liu Department of Microbiology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Dan Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Jianguo Lu Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Guoqiang Bao Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Sijia Zhang Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Lifeng Wang Department of Biochemistry and Molecular Biology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Yuanming Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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affected ( 2 , 6 , 7 ). The first molecular genetic mutation related to PHO was identified in HPGD (MIM 601688) gene, which involved in the prostaglandin E2 metabolic pathway ( 8 ). HPGD encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH, EC 1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0326
Volume/Issue:
Volume 7: Issue 11
Open access
Sara Ahmadi Division of Endocrinology, Thyroid Section, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Iñigo Landa Division of Endocrinology, Thyroid Section, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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mutually exclusive mutations of BRAF , RAS or through gene rearrangements involving RET and other receptor tyrosine kinases (RTK) ( 2 ). Even though all these alterations activate MAPK signaling, BRAF -mutant, RAS -mutant, and RET -rearranged

Article Type:
Review Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-23-0297
Volume/Issue:
Volume 13: Issue 2
Open access
Yiqiang Huang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Lin-ang Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Qiubo Xie Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jian Pang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Luofu Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yuting Yi Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Jun Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Yao Zhang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Weihua Lan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Jun Jiang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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mortality due to hypersecretion of catecholamines and metanephrines, which induce hypertension and cardiovascular diseases. It is estimated that ~30% PCC/PGLs are genetically inherited disease, and this percentage may rise as new PCC/PGL-causing mutations

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0325
Volume/Issue:
Volume 7: Issue 12
Open access
Lanping Jiang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Department of Nephrology & Key Laboratory of Nephrology, National Health Commission and Guangdong Province, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

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Xiaoyan Peng Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Renal Division, Children’s Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China

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Bingbin Zhao Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Zhang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lubin Xu Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xuemei Li Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Min Nie Department of Endocrinology & Key Laboratory of Endocrinology, National Health and Family Planning Commission, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Limeng Chen Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Introduction Gitelman syndrome (GS, OMIM263800) is a recessively inherited salt-losing tubulopathy caused by mutations of SLC12A3 gene, which encodes the thiazide-sensitive human Na–Cl co-transporter (hNCC NM_000339.2; OMIM 600968) ( 1 , 2

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-21-0262
Volume/Issue:
Volume 11: Issue 1
Open access
R Solomon-Zemler Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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L Basel-Vanagaite Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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D Steier Day Hospitalization Department, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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S Yakar David B. Kriser Dental Center, Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, New York, USA

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E Mel Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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M Phillip Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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L Bazak Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel

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D Bercovich Tel-Hai College, Tel-Hai, Israel

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H Werner Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel

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L de Vries Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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defects), IGFALS mutations and IGF1R gene mutations or rearrangements. Most reported IGF1R mutations were diagnosed in children born small for gestational age (SGA) ( 1 ). These mutations can affect ligand binding and/or reduce cell-surface IGF1R

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0038
Volume/Issue:
Volume 6: Issue 6
Open access