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Nathalia G B P Ferreira
Nathalia G B P Ferreira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Joao L O Madeira
Joao L O Madeira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Peter Gergics
Peter Gergics
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Renata Kertsz
Renata Kertsz
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Juliana M Marques
Juliana M Marques
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Nicholas S S Trigueiro
Nicholas S S Trigueiro
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Anna Flavia Figueredo Benedetti
Anna Flavia Figueredo Benedetti
University of Michigan Medical School, Department of Human Genetics, Ann Arbor, Michigan, United States
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Bruna V Azevedo
Bruna V Azevedo
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Bianca H V Fernandes
Bianca H V Fernandes
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
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Debora D Bissegatto
Debora D Bissegatto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Isabela P Biscotto
Isabela P Biscotto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Qing Fang
Qing Fang
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Qianyi Ma
Qianyi Ma
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Asye B Ozel
Asye B Ozel
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Jun Li
Jun Li
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Sally A Camper
Sally A Camper
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
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Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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Berenice B Mendonça
Berenice B Mendonça
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Ivo J P Arnhold
Ivo J P Arnhold
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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Luciani R Carvalho
Luciani R Carvalho
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
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demonstrate human-specific CDH2 mRNA and protein expression, we performed quantitative PCR and immunocytochemistry ( Fig. 3A and B ; Supplementary Fig. 2). The housekeeping gene Gapdh (glyceraldehyde 3-phosphate dehydrogenase) is expressed in all cell
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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by HSD17B3 ) deficiency ( 9 , 10 , 11 ) and alteration of steroidogenic factor 1 (SF-1; encoded by NR5A1 ) function ( 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ) have been associated with virilization at puberty. Through the description
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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. ( https://doi.org/10.1016/j.jpeds.2007.05.012 ) 12 Yung B Noormohamed FH Kemp M Hooper J Lant AF Hodson ME . Cystic fibrosis-related diabetes: the role of peripheral insulin resistance and β-cell dysfunction . Diabetic Medicine 2002 19 221
Claire L Wood
Claire L Wood
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Kieren G Hollingsworth
Kieren G Hollingsworth
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Edrina Bokaie
Edrina Bokaie
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Eric Hughes
Eric Hughes
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Robert Muni-Lofra
Robert Muni-Lofra
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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Anna Mayhew
Anna Mayhew
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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Rod T Mitchell
Rod T Mitchell
MRC Centre for Reproductive Health, The University of Edinburgh, Queens Medical Research Institute, Edinburgh, UK
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Michela Guglieri
Michela Guglieri
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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Joseph McElvaney
Joseph McElvaney
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
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Timothy D Cheetham
Timothy D Cheetham
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Volker Straub
Volker Straub
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
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small to demonstrate such a correlation and no semen analysis was undertaken. Inhibin B is secreted from the Sertoli cells in the testis. Inhibin B levels significantly increased from baseline to 158.2 pg/mL ( s.d. 87.6), but final levels remained lower
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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Introduction Luteinizing hormone (LH) and follicle-stimulating hormone (FSH), both produced in the gonadotropic cells of the anterior pituitary gland, have recently been described as an excellent marker of sex when combined in the LH/FSH ratio
Sommayya Aftab
Sommayya Aftab
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Diliara Gubaeva
Diliara Gubaeva
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Jayne A L Houghton
Jayne A L Houghton
The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
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Antonia Dastamani
Antonia Dastamani
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Ellada Sotiridou
Ellada Sotiridou
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Clare Gilbert
Clare Gilbert
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Sarah E Flanagan
Sarah E Flanagan
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
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Anatoly Tiulpakov
Anatoly Tiulpakov
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Maria Melikyan
Maria Melikyan
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Pratik Shah
Pratik Shah
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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). GDH is highly expressed in pancreatic β-cells, liver, kidney and brain, where it plays an important role in the metabolism of amino acids and ammonia ( 3 ). In pancreatic β-cells, it catalyses the oxidative deamination of glutamate to alpha
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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2.13 (1.65–2.72) 2.46 (1.95–3.13) 2.43 (1.96–3.04) 0.05 0.02 b 0.49 20α-HSD activity 20α-DHF/ F 0.57 (0.47–0.73) 0.59 (0.49–0.72) 0.53 (0.47–0.61) 0.69 0.08 0.001 b 11β-hydroxylase activity (THF + a-THF)/ THS
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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including neurons that release kisspeptin, neurokinin B and dynorphin (KNDy) that stimulate pituitary release of gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This hormonal cascade results in gonadal maturation with
Danielle Christine Maria van der Kaay
Danielle Christine Maria van der Kaay
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Anne Rochtus
Anne Rochtus
Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium
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Gerhard Binder
Gerhard Binder
University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany
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Ingo Kurth
Ingo Kurth
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Dirk Prawitt
Dirk Prawitt
Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany
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Irène Netchine
Irène Netchine
Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
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Gudmundur Johannsson
Gudmundur Johannsson
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Miriam Elbracht
Miriam Elbracht
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Thomas Eggermann
Thomas Eggermann
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Introduction Human growth is a complex physiological process, driven by the orchestrated expression of multiple genes and systems to control cell proliferation, cell hypertrophy, and extracellular matrix production, and be responsible for
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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Mutation in PTF1 No mutation in KCNJ11, ABCC8, INS, EIF2AK3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, PDX1, PTF1A, NEUROD1, NEUROG3, NKX2-2, RFX6, SLC2A2, SLC19A2, STAT3, WFS1, and ZFP57. Yes No Hilbrands et al. (also described in De
