Kirsten Davidse
Kirsten Davidse
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Anneloes van Staa
Anneloes van Staa
Research Centre Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, the Netherlands
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Wanda Geilvoet
Wanda Geilvoet
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Judith P van Eck
Judith P van Eck
Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Karlijn Pellikaan
Karlijn Pellikaan
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Janneke Baan
Janneke Baan
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Department of Paediatric 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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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands
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Erica L T van den Akker
Erica L T van den Akker
Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Theo Sas
Theo Sas
Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Sabine E Hannema
Sabine E Hannema
Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands
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Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands
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Aart Jan van der Lely
Aart Jan van der Lely
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Laura C G de Graaff
Laura C G de Graaff
Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
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Introduction Improved diagnostics and treatment options have increased the life expectancy of children with genetic and/or congenital disorders ( 1 ). As a result, more and more patients with childhood-onset chronic conditions are making the
Ditte Sofie Dahl Sørensen
Ditte Sofie Dahl Sørensen
Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Jesper Krogh
Jesper Krogh
Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Åse Krogh Rasmussen
Åse Krogh Rasmussen
Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Mikkel Andreassen
Mikkel Andreassen
Department of Endocrinology and Metabolism, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Introduction Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme defects in the steroid biosynthesis of the adrenal cortex. In approximately 95% of cases, the disorder is caused by a pathogenic
Athanasios Zervas
Athanasios Zervas
Endocrine Unit, Athens Medical Centre, Athens, Greece
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George Chrousos
George Chrousos
Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University Research Institute of Maternal and Child Health and Precision Medicine, and UNESCO Chair on Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece
National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
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National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
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Sarantis Livadas
Sarantis Livadas
Endocrine Unit, Athens Medical Centre, Athens, Greece
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. ISS of known etiology (A) Disproportionate (1) Congenital: skeletal dysplasias (2) Acquired: secondary to malformations, radiotherapy, tumors, and other diseases (B) Proportionate of prenatal origin (newborn SGA
Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
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Christopher J Nolan
Christopher J Nolan
Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia
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Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
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Yes Congenital diaphragmatic hernia, absent gallbladder Zanfardino et al. ( 45 ) F 34 Yes 1180 (0.46) 40 (0.90) – C NA Yes No a Gestational age below 22 weeks and thus not included in Fig. 1. C, clinical
Enora Le Roux
Enora Le Roux
Université de Paris, ECEVE UMR 1123, Inserm, Paris, France
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France
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AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France
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Florence Menesguen
Florence Menesguen
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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Isabelle Tejedor
Isabelle Tejedor
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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Marc Popelier
Marc Popelier
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France
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Marine Halbron
Marine Halbron
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France
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Pauline Faucher
Pauline Faucher
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France
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Sabine Malivoir
Sabine Malivoir
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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Graziella Pinto
Graziella Pinto
AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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Juliane Léger
Juliane Léger
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du Développement, Paris, France
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Stephane Hatem
Stephane Hatem
Institute of Cardiology and Nutrition, Paris, France
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Michel Polak
Michel Polak
AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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Christine Poitou
Christine Poitou
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France
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Philippe Touraine
Philippe Touraine
AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France
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involved, of the difficulties faced during transition by young adults with congenital adrenal hyperplasia, hypogonadotropic hypogonadism and growth hormone deficiency ( 14 ). The need for development of such a programme was reinforced by a second survey
S R Ali
S R Ali
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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J Bryce
J Bryce
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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A L Priego-Zurita
A L Priego-Zurita
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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M Cherenko
M Cherenko
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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C Smythe
C Smythe
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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T M de Rooij
T M de Rooij
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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M Cools
M Cools
Department of Internal Medicine and Paediatrics, Ghent University, Belgium
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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T Danne
T Danne
Diabetes Center AUF DER BULT, Hannover, Germany
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H Katugampola
H Katugampola
UCL GOS Institute of Child Health, London
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O M Dekkers
O M Dekkers
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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O Hiort
O Hiort
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany
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A Linglart
A Linglart
AP-HP, Université Paris Saclay, INSERM, Bicêtre Paris Saclay Hospital, le Kremlin Bicêtre, France
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I Netchine
I Netchine
Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France
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A Nordenstrom
A Nordenstrom
Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
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P Attila
P Attila
Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary
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L Persani
L Persani
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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N Reisch
N Reisch
Endokrinologie, Medizinische Klinik Innenstadt und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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A Smyth
A Smyth
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Z Sumnik
Z Sumnik
Department of Pediatrics, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic
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D Taruscio
D Taruscio
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
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W E Visser
W E Visser
Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands
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A M Pereira
A M Pereira
Department of Endocrinology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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N M Appelman-Dijkstra
N M Appelman-Dijkstra
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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S F Ahmed
S F Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
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(%) <18 years ≥18 years MTG 1. Adrenal 268 6% 1470 15% Congenital adrenal hyperplasia 181 68% 267 18% Primary adrenal insufficiency 57 21% 287 20% Cortisol-producing adenomas 12 4% 222 15
Arno Téblick
Arno Téblick
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Ilse Vanhorebeek
Ilse Vanhorebeek
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Inge Derese
Inge Derese
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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An Jacobs
An Jacobs
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Renata Haghedooren
Renata Haghedooren
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Sofie Maebe
Sofie Maebe
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Gerdien A Zeilmaker-Roest
Gerdien A Zeilmaker-Roest
Department of Neonatal & Pediatric Intensive Care, Division of Pediatric Intensive Care, Erasmus MC – Sophia Children’s Hospital, Rotterdam, the Netherlands
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Enno D Wildschut
Enno D Wildschut
Department of Neonatal & Pediatric Intensive Care, Division of Pediatric Intensive Care, Erasmus MC – Sophia Children’s Hospital, Rotterdam, the Netherlands
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Lies Langouche
Lies Langouche
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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Greet Van den Berghe
Greet Van den Berghe
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium
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with cardiopulmonary bypass for any congenital cardiac diagnosis, before, during, and after the surgery on post-operative PICU days 1 and 2 ( Fig. 1 ). Except for plasma POMC on post-operative PICU day 2 ( P = 0.02) with higher concentrations within
Ananda A Santana-Ribeiro
Ananda A Santana-Ribeiro
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
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Giulliani A Moreira-Brasileiro
Giulliani A Moreira-Brasileiro
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Manuel H Aguiar-Oliveira
Manuel H Aguiar-Oliveira
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil
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Roberto Salvatori
Roberto Salvatori
Division of Endocrinology, Diabetes and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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Vitor O Carvalho
Vitor O Carvalho
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Claudia K Alvim-Pereira
Claudia K Alvim-Pereira
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
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Carlos R Araújo-Daniel
Carlos R Araújo-Daniel
Department of Statistic and Actuarial Sciences, Federal University of Sergipe, Aracaju, Sergipe, Brazil
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Júlia G Reis-Costa
Júlia G Reis-Costa
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
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Alana L Andrade-Guimarães
Alana L Andrade-Guimarães
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Alécia A Oliveira-Santos
Alécia A Oliveira-Santos
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil
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Edgar R Vieira
Edgar R Vieira
Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA
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Miburge B Gois-Junior
Miburge B Gois-Junior
Laboratory of Motor Control and Body Balance, Center for Health Science Research, Federal University of Sergipe, Sergipe, Brazil
Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA
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are more useful in neurological diseases, in which sensitivity is less relevant. The aims of this study were to assess walking, postural balance and fall risk in congenital, untreated, lifetime IGHD subjects. Methods Subjects In a cross
Alexandra Kiess
Alexandra Kiess
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Jessica Green
Jessica Green
Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain
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Anja Willenberg
Anja Willenberg
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Uta Ceglarek
Uta Ceglarek
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Ingo Dähnert
Ingo Dähnert
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
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Wieland Kiess
Wieland Kiess
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Mandy Vogel
Mandy Vogel
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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-BP1/IGF-1-ratio with NT-proBNP were seen in patients with and without HF ( 4 ); in a cohort of pediatric and adult patients with Fontan physiology, higher BNP was associated with lower IGF-1 Z scores ( 5 ) and in 30 pediatric patients with congenital
Ja Hye Kim
Ja Hye Kim
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Yunha Choi
Yunha Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Soojin Hwang
Soojin Hwang
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Ji-Hee Yoon
Ji-Hee Yoon
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Jieun Lee
Jieun Lee
Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea
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Min Jae Kang
Min Jae Kang
Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea
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Gu-Hwan Kim
Gu-Hwan Kim
Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Han-Wook Yoo
Han-Wook Yoo
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Jin-Ho Choi
Jin-Ho Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Dodé C Dunkel L Dwyer AA Giacobini P Hardelin JP Juul A , Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment . Nature Reviews. Endocrinology 2015 11 547
