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Martijn J J Finken
Martijn J J Finken
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Aleid J G Wirix
Aleid J G Wirix
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Ines A von Rosenstiel-Jadoul
Ines A von Rosenstiel-Jadoul
Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands
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Bibian van der Voorn
Bibian van der Voorn
Department of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands
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Mai J M Chinapaw
Mai J M Chinapaw
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Michaela F Hartmann
Michaela F Hartmann
Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany
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Joana E Kist-van Holthe
Joana E Kist-van Holthe
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Stefan A Wudy
Stefan A Wudy
Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany
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Joost Rotteveel
Joost Rotteveel
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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development of obesity-associated hypertension requires various concerted steps that could result in an increased availability of bioactive glucocorticoids. Therefore, in the present study using targeted gas chromatography-mass spectrometry (GC-MS) steroid
Muriel Houang
Muriel Houang
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
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Thao Nguyen-Khoa
Thao Nguyen-Khoa
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
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Thibaut Eguether
Thibaut Eguether
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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Bettina Ribault
Bettina Ribault
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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Séverine Brabant
Séverine Brabant
Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
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Michel Polak
Michel Polak
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
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Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
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Irène Netchine
Irène Netchine
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
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Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
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Antonin Lamazière
Antonin Lamazière
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
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, respectively, with positive predictive values (PPVs) of 12.0 and 16.1%, respectively. Different factors could explain such a low PPV: (i) cross-reactive detection of 17-OHP with its steroid precursors and their sulphated conjugates, which are present in the
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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subsequent production of sex steroids, non-steroidal factors and gametes ( 1 , 2 ). Although the HPG axis awakens in late childhood, the external signs of pubertal maturation: early breast development (Tanner stage II) and an increase in testicular volume
Yijun Tang
Yijun Tang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yao Chen
Yao Chen
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jiayi Wang
Jiayi Wang
Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Qianwen Zhang
Qianwen Zhang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yirou Wang
Yirou Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yufei Xu
Yufei Xu
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xin Li
Xin Li
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jian Wang
Jian Wang
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xiumin Wang
Xiumin Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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variants. The verification test results showed that 21.79% variants (17/78) were found to be de novo mutations. In primary gonadal/genital disorders subjects ( n = 48), SRD5A2 (steroid 5-alpha-reductase 2) and AR (androgen receptor) were the most
A Bergougnoux
A Bergougnoux
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
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L Gaspari
L Gaspari
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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M Soleirol
M Soleirol
Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France
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N Servant
N Servant
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
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S Soskin
S Soskin
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
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S Rossignol
S Rossignol
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
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K Wagner-Mahler
K Wagner-Mahler
Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France
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J Bertherat
J Bertherat
Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France
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C Sultan
C Sultan
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
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N Kalfa
N Kalfa
Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France
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F Paris
F Paris
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
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. Reprint of "Steroid 5α-reductase 2 deficiency" . Journal of Steroid Biochemistry and Molecular Biology 2017 165 95 – 100 . ( https://doi.org/10.1016/j.jsbmb.2016.11.006 ) 8 Bonnet E Winter M Mallet D Plotton I Bouvattier C Cartigny M
Alberto Battezzati
Alberto Battezzati
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Andrea Foppiani
Andrea Foppiani
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Gianfranco Alicandro
Gianfranco Alicandro
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Arianna Bisogno
Arianna Bisogno
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Arianna Biffi
Arianna Biffi
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Giorgio Bedogni
Giorgio Bedogni
Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy
Internal Medicine, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy
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Internal Medicine, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy
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Simona Bertoli
Simona Bertoli
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
Istituto Auxologico Italiano, IRCCS, Obesity Unit - Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy
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Istituto Auxologico Italiano, IRCCS, Obesity Unit - Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy
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Giulia De Carlo
Giulia De Carlo
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Erica Nazzari
Erica Nazzari
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Carla Colombo
Carla Colombo
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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regimen including the introduction of antibiotics or steroids) and had not previously received a CFRD diagnosis or treatment with insulin or oral hypoglycemic agents in the previous 6 months. Patients who had received or were listed for a lung or liver
Marie Lindhardt Ljubicic
Marie Lindhardt Ljubicic
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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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Trine Holm Johannsen
Trine Holm Johannsen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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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Margit Bistrup Fischer
Margit Bistrup Fischer
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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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Emmie N Upners
Emmie N Upners
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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 S Busch
Alexander S Busch
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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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Katharina M Main
Katharina M Main
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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Anna-Maria Andersson
Anna-Maria Andersson
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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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Casper P Hagen
Casper P Hagen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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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
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
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3134 – 3141 . ( https://doi.org/10.1093/humrep/deq291 ) 14 Clausen CS Ljubicic ML Main KM Andersson AM Petersen JH Frederiksen H Duno M Johannsen TH Juul A . Congenital adrenal hyperplasia in children: a pilot study of steroid
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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provocation tests were performed. Children with peak GH concentration below 10 ug/L in two different provocation tests were classified as GHD ( 20 ). Sex-steroid priming was used in all children of 7 years of age or older. Children with birth weight and
Martin Bidlingmaier
Martin Bidlingmaier
Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany
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Helena Gleeson
Helena Gleeson
Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK
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Ana-Claudia Latronico
Ana-Claudia Latronico
Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil
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Martin O Savage
Martin O Savage
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
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secretion, that modify the concentration of IGF-I, such as malnutrition, liver dysfunction, diabetes mellitus, hypothyroidism, and sex steroid levels ( 13 ). As a further complication, laboratory practices and assays may contribute to the variability in
