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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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monogenic and oligogenic defects in several genes that regulate the embryonic development or migration of GnRH neurons, or the synthesis, secretion or action of GnRH ( 2 ). The gonadotropin-releasing hormone receptor ( GNRHR ) gene was one of the first

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
M I Stamou Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA

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P Varnavas Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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L Plummer Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA

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V Koika Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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N A Georgopoulos Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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– kisspeptin 1, KISS1R (GPR54) – kisspeptin 1 receptor, TAC3 – tachykinin 3, TACR3 – tachykinin receptor 3, LEP – leptin, LEPR – leptin receptor) or its action on the pituitary ( GNRHR – GnRH receptor), cause normosmic idiopathic hypogonadotropic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0010
Volume/Issue:
Volume 8: Issue 5
Open access
Yao Chen Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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Shu-ying Fang Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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that were found or discussed in these publications were summarized. The genetic polymorphisms are classified as steroidogenic acute regulatory ( StAR ) gene polymorphisms, gonadotropin-releasing hormone receptor ( GnRHR ) gene polymorphisms, follicle

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0121
Volume/Issue:
Volume 7: Issue 5
Open access
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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the murine miR-7 predicted target genes, such as Glg1 , Ptgfrn , Sema4c and Chd3 ( 8 ) and currently known nHH/KS genes such as GNRHR , FGFR1 , SEMA7A and PROK2 (see Subjects and methods; ( 1 )). However, we found no mutations in MIR7

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0080
Volume/Issue:
Volume 8: Issue 5
Open access
Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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.2 GNRHR c.806C>T, p.Thr269Met Homo F + M AR LP 0.00001194 0.00000293 (European non-Finnish) 2955 6 years Hypogonadotropic hypogonadism, bilateral cryptorchidism, small testes NM_000216.2 ANOS1 c.1712G>A, p.Trp571* Hemi De

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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selection of the genes investigated was based on the PubMed and Orphanet bibliography (ORPHA432 and ORPHA478) and on the OMIM database. The genes investigated in the IHH were GNRHR, GNRH1, KISS1R, KISS1, TACR3, TAC3, ANOS1, FGFR1, FGF8, PROKR2, PROK2, WDR11

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0252
Volume/Issue:
Volume 12: Issue 4
Open access
Elena Galazzi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Paolo Duminuco IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Mirella Moro IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Fabiana Guizzardi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Nicoletta Marazzi IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy

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Alessandro Sartorio IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy

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Sabrina Avignone Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy

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Marco Bonomi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Luca Persani IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Maria Teresa Bonati IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy

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, FSHB , FEZF1 , NSMF , LHB , FGF17 , PROK2 , FGF8 , PROKR2 , FGFR1 , SEMA3A , FLRT3 , SEMA3E , GNRH1/2 , SEMA7A , SOX10 , GNRHR , SOX2 , HS6ST1 , HESX1, SPRY4 , IL17RD , TAC3 , ANOS1 ( KAL1 ), TACR3 , KISS1 , WDR11 , KISS1R , LHX

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0486
Volume/Issue:
Volume 7: Issue 12
Open access
Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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-337 ) 42 Basaran Y Bolu E Unal HU Sagkan RI Taslipinar A Ozgurtas T & Musabak U . Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0413
Volume/Issue:
Volume 12: Issue 5
Open access