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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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neurons is accompanied by the development and/or migration of the olfactory system in the early fetus, patients with Kallmann syndrome (KS) manifest a combined dysfunction of the GnRH and olfactory systems ( 2 ). IGD is also associated with a normal sense

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
Ja Hye Kim Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, 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 Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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

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full clinical features of CHARGE syndrome. CHD7 variants have been identified in normosmic isolated hypogonadotropic hypogonadism (nIHH), Kallmann syndrome (KS), self-limited delayed puberty, as well as CHARGE syndrome ( 3 , 4 , 5 , 6 , 7

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
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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 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 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 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 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 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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, including deafness, renal abnormalities and digital anomalies ( 1 , 2 ). Furthermore, IHH can be categorized according to olfactory function as IHH with a normal sense of smell (normosmic IHH; nIHH) and IHH with anosmia/hyposmia (Kallmann syndrome; KS

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0251
Volume/Issue:
Volume 6: Issue 8
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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hypogonadotropic hypogonadism is called normosmic (ncHH) if patients have normal sense of smell, whereas Kallmann syndrome (KS) is a form of the same disease where patients have absent or deficient smell ( 2 ). In the case of normosmic cHH, abnormal GnRH function

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0080
Volume/Issue:
Volume 8: Issue 5
Open access
Shota Dzemaili University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland

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Jitske Tiemensma University of California Merced, Psychological Science, Merced, CA, USA

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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 Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

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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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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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. Living with Kallmann syndrome – analysis of subjective experience reports from women . Geburtshilfe Frauenheilkd 2013 73 1112 – 1120 . ( doi:10.1055/s-0033-1350881 ) 31 DiMatteo MR Lepper HS Croghan TW. Depression is a risk factor

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0095
Volume/Issue:
Volume 6: Issue 6
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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hormone deficiencies. CHH may occur associated with anosmia, a condition referred as Kallmann syndrome, or may occur without associated olfactory abnormalities, referred to as normosmic CHH (nCHH) ( 1 ). Genetic studies of patients with CHH have identified

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Ericka B Trarbach Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Cintia Tusset Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Ana Claudia Latronico Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Luciana R Montenegro Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Luciani R Carvalho Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Marcela M Franca Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Aline P Otto Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Everlayny F Costalonga Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Vinicius N Brito Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Ana Paula Abreu Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Mirian Y Nishi Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Alexander A L Jorge Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Yisrael Sidis Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Nelly Pitteloud Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Unidade de Endocrinologia Genética, Centre Hospitalier Universitaire Vaudois (CHUV), Division of Endocrinology, Laboratório de Hormônios e Genética Molecular LIM42

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/or Kallmann syndrome (KS), such as midline cerebral and facial defects (3) . The adenohypophyseal and olfactory placodes share a common embryological origin as they both emerge from the preplacodal field, which could explain this overlap (4) . FGFR1, a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0015
Volume/Issue:
Volume 4: Issue 2
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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heterogeneous IGD only ~50% of patients have a genetic mutation that is identifiable ( 2 , 6 ). Mutations in genes that disrupt the neurodevelopmental pathway of GnRH, that is the development and migration of GnRH neurons cause Kallmann Syndrome (KS), and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0010
Volume/Issue:
Volume 8: Issue 5
Open access
Rebeca Esquivel-Zuniga Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Male Klinefelter syndrome Congenital anorchia/testicular regression Kallmann syndrome Combined pituitary hormone deficiency CNS: Tumors/infiltrative diseases Chemotherapy/Radiation therapy Systemic illness e.g. (inflammatory bowel disease, celiac

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0190
Volume/Issue:
Volume 12: Issue 11
Open access
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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Yaasir Mamoojee Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Satish Artham Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Margaret Miller Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle upon Tyne, UK

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Stephen G Ball Department of Endocrinology, Central Manchester University Hospitals, Manchester, UK
Department of Endocrinology, University of Manchester, Manchester, UK

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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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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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://doi.org/10.1111/cen.13236 ) 27647266 10.1111/cen.13236 6 Smith N Quinton R. Kallmann syndrome . BMJ 2012 345 e6971 . ( https://doi.org/10.1136/bmj.e6971 ) 10.1136/bmj.e6971 23207501 7 Howard S Dunkel L. Sex steroid and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0241
Volume/Issue:
Volume 7: Issue 1
Open access