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Farzaneh Rohani Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran
Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Mohammad Reza Alai Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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Sedighe Moradi Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences, Tehran, Iran

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Davoud Amirkashani Department of Pediatrics Endocrinology and Metabolism, Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran

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Introduction Constitutional delay in growth and puberty (CDGP) is the most common cause of short stature and puberty delay in boys ( 1 , 2 , 3 , 4 ). This condition is considered as a normal variation, and affected individuals typically

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0043
Volume/Issue:
Volume 7: Issue 3
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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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

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0252
Volume/Issue:
Volume 12: Issue 4
Open access
Annette Mouritsen Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Alexander Siegfried Busch Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Ewa Rajpert-De Meyts Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Introduction Testosterone (T) promotes maturation of the male reproductive organs, development of secondary sex characteristics and production of sperm by the testes. In puberty in boys, pulsatile gonadotropin stimulation upon reactivation of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0080
Volume/Issue:
Volume 7: Issue 3
Open access
Mirjana Kocova Department of Endocrinology and Genetics, Medical Faculty, University Pediatric Clinic, Ss. Cyril and Methodius University, Skopje, Republic of Macedonia

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Vesna Janevska Institute of Pathology, Medical Faculty, Ss. Cyril and Methodius University, Skopje, Republic of Macedonia

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Violeta Anastasovska Genetic Laboratory, Medical Faculty, University Pediatric Clinic, Ss. Cyril and Methodius University, Skopje, Republic of Macedonia

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. The usual age at diagnosis is 20–40 years with a variable prevalence reaching up to 94% ( 4 , 5 , 6 , 7 ). Some recent studies show that it can also affect younger boys ( 8 ). Severe CYP21A2 gene mutations, late diagnosis, non-compliance and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0097
Volume/Issue:
Volume 7: Issue 4
Open access
Andre Madsen Hormone Laboratory, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway
Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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concentrations of reproductive hormones are abnormal during minipuberty ( 5 ) and adult life ( 6 ) where the HPG axis is fully active. By contrast, it is difficult to identify abnormal hormone concentrations in individual pre- and peripubertal boys with KS as

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0537
Volume/Issue:
Volume 12: Issue 5
Open access
Iben Katinka Greiber Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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

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Alexander Siegfried Busch Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Mikkel Grunnet Mieritz Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglæde Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Katharina Main Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Kristian Almstrup Department of Growth and Reproduction, EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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

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assess the effect of genetic variation of AMH signaling ( AMH rs10407022 T>G and AMHR2 rs11170547 C>T) on circulating hormone levels in boys and girls during pubertal development. Our findings support recent GWAS results in young adults and expand

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0299
Volume/Issue:
Volume 7: Issue 2
Open access
Hans Valdemar López Krabbe Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Jørgen Holm Petersen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Section of Biostatistics, University of Copenhagen, Copenhagen, Denmark

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Louise Laub Asserhøj Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Fertility, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Peter Christiansen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Rikke Beck Jensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Line Hartvig Cleemann Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Lærke Priskorn Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Niels Jørgensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

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some of the variability in the KS phenotype ( 1 , 5 , 6 , 7 ). Studies on body composition in children with KS have shown that already during early infancy and before puberty, these boys may exhibit an unfavorable body composition ( 8 , 9 , 10

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0031
Volume/Issue:
Volume 12: Issue 7
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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analysis Boys and girls were analyzed separately. All variables were expressed in terms of medians and 10th and 90th percentiles or means and standard error. SD scores (SDS) were calculated as patient parameter minus mean of the reference population for

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0090
Volume/Issue:
Volume 9: Issue 5
Open access
Supitcha Patjamontri Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
Division of Endocrinology and Metabolism, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

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Alexander Spiers MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK

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Rachel B Smith MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK

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Chen Shen MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK

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Jo Adaway Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK

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Brian G Keevil Department of Clinical Biochemistry, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK

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Mireille B Toledano MRC Centre for Environment and Health, Imperial College London, London, UK
NIHR Health Protection Research Unit on Chemical Radiation Threats and Hazards, Imperial College London, London, UK
National Institute for Health Research (NIHR) Health Protection Research Unit in Environmental Exposures and Health, Imperial College London, London, UK
Mohn Centre for Children’s Health and Wellbeing, Imperial College London, London, UK

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S Faisal Ahmed Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK

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steroids in the present study, a total of 925 boys and 620 girls had at least one saliva sample analysed at one of two time points, T1 (between March 2015 and July 2016) and T2 (between February 2017 and July 2018). Figure 1 shows the cohort data relevant

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0084
Volume/Issue:
Volume 12: Issue 12
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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Introduction The first physical signs of puberty in boys and girls are testicular enlargement and breast budding, respectively ( 1 ). Typically, these signs appear at 11–12 years of age in boys and at 9–10 years of age in girls ( 1 ). Several

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0134
Volume/Issue:
Volume 10: Issue 10
Open access