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Catarina I Gonçalves
Catarina I Gonçalves
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal
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José M Aragüés
José M Aragüés
Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal
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Margarida Bastos
Margarida Bastos
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
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Luísa Barros
Luísa Barros
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
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Nuno Vicente
Nuno Vicente
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
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Davide Carvalho
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
Manuel C Lemos
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal
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Introduction Congenital hypogonadotropic hypogonadism (CHH) is characterised by partial or complete lack of pubertal development, secondary to deficient gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion ( 1 ). Diagnosis is
Shota Dzemaili
Shota Dzemaili
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
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Jitske Tiemensma
Jitske Tiemensma
University of California Merced, Psychological Science, Merced, CA, USA
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Richard Quinton
Richard Quinton
Department of Endocrinology, Institute for Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, United Kingdom
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Nelly Pitteloud
Nelly Pitteloud
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Diane Morin
Diane Morin
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Faculty of Nursing Science, Laval University, Québec City, Canada
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Faculty of Nursing Science, Laval University, Québec City, Canada
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Andrew A Dwyer
Andrew A Dwyer
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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maintaining the reproductive capacity ( 2 ). Acquired GnRH deficiency (i.e. hypothalamic amenorrhea) is a common cause of secondary amenorrhea that is reversible ( 3 ). More severe forms of GnRH deficiency, such as congenital hypogonadotropic hypogonadism (CHH
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
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Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
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Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
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Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
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Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
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Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
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Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, 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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Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
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Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
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Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
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Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
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Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
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Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
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Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
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Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
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Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
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Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
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Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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the differences of sex development (DSD), that are generally associated with phenotypical manifestations incongruent with chromosomal sex (46,XY DSD and 46,XX DSD), and those associated with absent/delayed puberty due to congenital hypogonadotropic
Anna-Pauliina Iivonen
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
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
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
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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New Children’s Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland
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Introduction Congenital hypogonadotropic hypogonadism (cHH) is a rare genetic disease that prevents pubertal development and causes infertility due to deficient secretion or action of gonadotropin-releasing hormone (GnRH) ( 1 ). Congenital
Tristan Avril
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
Quentin Hennocq
Datascience platform, Imagine Institute, Université Paris Cité, Paris, France
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Anne-Sophie Lambert
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
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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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Dominique Simon
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
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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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Claire Bouvattier
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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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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Introduction Congenital hypogonadotropic hypogonadism (CHH), a rare genetic condition of unknown prevalence (approximately 1/5000), can be diagnosed shortly after birth in boys who present with micropenis and/or unilateral or bilateral
Ja Hye Kim
Ja Hye Kim
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Yunha Choi
Yunha Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Soojin Hwang
Soojin Hwang
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Ji-Hee Yoon
Ji-Hee Yoon
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Jieun Lee
Jieun Lee
Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea
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Min Jae Kang
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
Gu-Hwan Kim
Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Han-Wook Yoo
Han-Wook Yoo
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Jin-Ho Choi
Jin-Ho Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Dodé C Dunkel L Dwyer AA Giacobini P Hardelin JP Juul A , Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment . Nature Reviews. Endocrinology 2015 11 547
Elena Galazzi
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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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Paolo Duminuco
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
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
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
Nicoletta Marazzi
IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
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Alessandro Sartorio
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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Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy
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Sabrina Avignone
Sabrina Avignone
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy
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Marco Bonomi
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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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Luca Persani
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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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Maria Teresa Bonati
Maria Teresa Bonati
IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy
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follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism . Journal of Clinical Endocrinology and Metabolism 2013 98 E1790 – E1795 . ( https://doi.org/10.1210/jc.2013-2518 ) 17
Agnieszka Pazderska
Agnieszka Pazderska
Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Department of Endocrinology, St James’s Hospital, Dublin, Ireland
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Department of Endocrinology, St James’s Hospital, Dublin, Ireland
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Yaasir Mamoojee
Yaasir Mamoojee
Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
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Satish Artham
Satish Artham
Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
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Margaret Miller
Margaret Miller
Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
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Stephen G Ball
Stephen G Ball
Department of Endocrinology, Central Manchester University Hospitals, Manchester, UK
Department of Endocrinology, University of Manchester, Manchester, UK
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Department of Endocrinology, University of Manchester, Manchester, UK
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Tim Cheetham
Tim Cheetham
Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK
Department of Paediatric Endocrinology & Diabetes, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
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Department of Paediatric Endocrinology & Diabetes, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
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Richard Quinton
Richard Quinton
Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK
Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK
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Endocrine Research Group, Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle upon Tyne, UK
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Dwyer AA Giacobini P Hardelin JP Juul A Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism – pathogenesis, diagnosis and treatment . Nature Reviews Endocrinology 2015 11 547 – 564
Mikkel Andreassen
Mikkel Andreassen
Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Anders Juul
Anders Juul
Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Ulla Feldt-Rasmussen
Ulla Feldt-Rasmussen
Department of Endocrinology, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Niels Jørgensen
Niels Jørgensen
Department of Growth and Reproduction, Faculty of Health Science, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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in humans, although some controversy exists ( 1 , 2 ). Through negative feedback, testosterone is the predominant regulator of LH, whereas inhibin b is the predominant regulator of FSH ( 2 ). Congenital hypogonadotropic hypogonadism (CHH) is
Rui-yi Tang
Rui-yi Tang
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Rong Chen
Rong Chen
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Miao Ma
Miao Ma
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Shou-qing Lin
Shou-qing Lin
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Yi-wen Zhang
Yi-wen Zhang
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Ya-ping Wang
Ya-ping Wang
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People’s Republic of China
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Introduction Idiopathic hypogonadotropic hypogonadism (IHH) is also known as congenital hypogonadotropic hypogonadism. This rare clinically and genetically heterogeneous disorder is characterized by complete or partial pubertal failure, which
