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Anastasia Ibba SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico, ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Francesca Corrias SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico, ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Chiara Guzzetti SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico, ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Letizia Casula SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico, ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Mariacarolina Salerno Dipartimento di Pediatria, Università Federico II, Napoli, Italy

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Natascia di Iorgi Dipartimento di Pediatria, IRCCS Istituto Giannina Gaslini, Università di Genova, Genova, Italy
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy

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Gianluca Tornese SSD Endocrinologia Pediatrica, Clinica Pediatrica, IRCCS Materno-infantile Burlo Garofolo, Trieste, Italy

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Giuseppa Patti Dipartimento di Pediatria, IRCCS Istituto Giannina Gaslini, Università di Genova, Genova, Italy
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy

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Giorgio Radetti Dipartimento di Pediatria, Ospedale Generale Regionale, Bolzano, Italy

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Mohamad Maghnie Dipartimento di Pediatria, IRCCS Istituto Giannina Gaslini, Università di Genova, Genova, Italy
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-infantili, Università di Genova, Genova, Italy

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Marco Cappa UOC di Endocrinologia, Dipartimento Universitario Ospedaliero, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy

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Sandro Loche SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico, ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Introduction The diagnosis of growth hormone deficiency (GHD) in childhood and adolescence is based on auxological, biochemical, neuro-radiological, and genetic investigations. Since GH production is pulsatile, its secretion needs to be

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0347
Volume/Issue:
Volume 9: Issue 11
Open access
Thomas Reinehr Pediatric Endocrinology, Diabetes and Nutrition Medicine, Vestische Children’s Hospital, University of Witten/Herdecke, Datteln, Germany

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Martin Carlsson Endocrine Care, Pfizer Inc, New York, New York, USA

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Dionisios Chrysis Division of Pediatric Endocrinology, University of Patras, Patras, Greece

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Cecilia Camacho-Hübner Endocrine Care, Pfizer Inc, New York, New York, USA

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height is lower than predicted height. The difference between predicted and achieved adult height depends on bone age retardation in CDGP ( 8 , 9 , 11 ). Since bone age is delayed in children with growth hormone deficiency (GHD) before the initiation

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Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0090
Volume/Issue:
Volume 9: Issue 5
Open access
Sidsel Mathiesen Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Kaspar Sørensen Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Marianne Ifversen Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Jørgen Holm Petersen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Section of Biostatistics, Department of Public Health, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Klaus Müller Department of Pediatrics and Adolescent Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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-term follow-up study, we reported a high risk of testosterone deficiency and azoospermia in adult survivors of pediatric allogeneic HSCT ( 8 ). In the present study, we aimed at combining these data with a retrospective analysis of reproductive hormones and

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Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0154
Volume/Issue:
Volume 10: Issue 10
Open access
Mirjana Doknic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Marko Stojanovic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Ivan Soldatovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Institute of Medical Statistics and Informatics, Belgrade, Serbia

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Tatjana Milenkovic Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Vera Zdravkovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
University Children’s Clinic, Belgrade, Serbia

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Maja Jesic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
University Children’s Clinic, Belgrade, Serbia

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Sladjana Todorovic Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Katarina Mitrovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Rade Vukovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Dragana Miljic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Dragan Savic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Mihajlo Milicevic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Aleksandar Stanimirovic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Vojislav Bogosavljevic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Sandra Pekic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Emilija Manojlovic-Gacic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Institute of Pathology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Aleksandar Djukic Department of Pathophysiology, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia

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Danica Grujicic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Milan Petakov Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Introduction Patients with childhood-onset GH deficiency (COGHD) represent a heterogeneous group in terms of etiology of growth hormone deficiency (GHD), time of GHD onset and recombinant human GH (rhGH) replacement commencement, duration

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0274
Volume/Issue:
Volume 10: Issue 8
Open access
Ning Yao Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Chunbei Zhou Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Jun Xie Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Xinshu Li Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Qianru Zhou Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Jing Chen Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Shuang Zhou Chongqing Center for Disease Control and Prevention, Chongqing, People’s Republic of China

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Introduction Iodine deficiency disorders (IDD) indicate the broad range of harmful effects due to low level of thyroid hormones in the blood caused by an inadequate dietary supply of iodine ( 1 , 2 ). Pregnant women and young children are

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Research Article
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Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-19-0568
Volume/Issue:
Volume 9: Issue 5
Open access
Maki Igarashi Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Tadayuki Ayabe Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Kiwako Yamamoto-Hanada Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Keiko Matsubara Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Hatoko Sasaki Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Mayako Saito-Abe Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Miori Sato Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Nathan Mise Department of Environmental and Preventive Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan

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Akihiko Ikegami Department of Environmental and Preventive Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan

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Masayuki Shimono Regional Center for Pilot Study of Japan Environment and Children’s Study, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan

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Reiko Suga Regional Center for Pilot Study of Japan Environment and Children’s Study, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan

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Shouichi Ohga Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan

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Masafumi Sanefuji Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan

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Masako Oda Department of Public Health, Faculty of Life Sciences, Kumamoto University, Chuo-ku, Kumamoto, Japan

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Hiroshi Mitsubuchi Department of Neonatology, Kumamoto University Hospital, Chuo-ku, Kumamoto, Japan

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Takehiro Michikawa Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Shin Yamazaki Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Shoji Nakayama Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Yukihiro Ohya Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Maki Fukami Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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years before developing physical signs, children undergo conspicuous changes in the blood levels of sex hormones. Usually, an increase in circulating adrenal steroids (‘adrenarche’) occurs at 7 or 8 years of age in children of both sexes ( 1 , 2 , 3

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Research Article
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Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0134
Volume/Issue:
Volume 10: Issue 10
Open access
Heike Hoyer-Kuhn Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

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Angela Huebner Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany

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Anette Richter-Unruh University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany

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Markus Bettendorf University Children’s Hospital Heidelberg, Heidelberg, Germany

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Tilman Rohrer University Children’s Hospital Homburg, Homburg, Germany

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Klaus Kapelari University Children’s Hospital Innsbruck, Innsbruck, Austria

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Stefan Riedl Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Klaus Mohnike Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Helmuth-Günther Dörr University Children’s Hospital Erlangen, Erlangen, Germany

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Friedrich-Wilhelm Roehl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Katharina Fink Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Joachim Woelfle University Children’s Hospital Erlangen, Erlangen, Germany

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Oberfield SE Ritzen EM Sippell WG Speiser PW Consensus statement on 21-hydroxylase deficiency from the european society for paediatric endocrinology and the lawson wilkins pediatric endocrine society . Hormone Research 2002 58 188 – 1 95

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Research Article
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Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0023
Volume/Issue:
Volume 10: Issue 5
Open access
Letícia Ribeiro Oliveira Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil

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Carlos Alberto Longui Pediatric Endocrinology Unit, School of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil

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Guilherme Guaragna-Filho Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil

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José Luiz Costa School of Pharmaceutical Sciences, UNICAMP, Campinas, Sao Paulo, Brazil
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Rafael Lanaro Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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David Antônio Silva Laboratory of Physiology, Division of Clinical Pathology, Clinical Hospital, UNICAMP, Campinas, Sao Paulo, Brazil

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Maria Izabel Chiamolera Fleury Group, Sao Paulo, Brazil

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Maricilda Palandi de Mello Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil

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André Moreno Morcillo Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Andrea Trevas Maciel-Guerra Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Gil Guerra-Junior Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation . Journal of Pediatric Endocrinology and Metabolism 2005 18 1383 – 1389 . ( https://doi.org/10.1515/jpem.2005.18.12.1383 ) 16459464 22 Scientific Working Group for Forensic

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Research Article
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Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0454
Volume/Issue:
Volume 9: Issue 11
Open access
Isabelle Flechtner Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Magali Viaud Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Dulanjalee Kariyawasam Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Marie Perrissin-Fabert Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Maud Bidet Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Anne Bachelot Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Touraine Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Labrune Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France

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Pascale de Lonlay Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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Michel Polak Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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follicular dysfunction ( 23 ). In males, two cohort studies showed delayed puberty ( 8 , 24 ) and below-target final height, although some patients may not have completed growth. In a study on 12 male patients, hormone levels were normal but 3 patients had

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Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0013
Volume/Issue:
Volume 10: Issue 2
Open access
Lisette van Alewijk Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Kirsten Davidse Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Karlijn Pellikaan Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Judith van Eck Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Theo C J Sas Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine Hannema Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands

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Aart J van der Lely Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Laura C G de Graaff Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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the participant. The first question: 'I visit the physician because of…' was a multiple-choice question with 13 answer options, including the names of various rEC like Turner syndrome, Klinefelter syndrome, growth hormone deficiency and the options 'I

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0304
Volume/Issue:
Volume 10: Issue 4
Open access