Heike Hoyer-Kuhn
Heike Hoyer-Kuhn
Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Search for other papers by Heike Hoyer-Kuhn in
Google Scholar
PubMed
Search for other papers by Heike Hoyer-Kuhn in
Google Scholar
PubMed
Angela Huebner
Angela Huebner
Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany
Search for other papers by Angela Huebner in
Google Scholar
PubMed
Search for other papers by Angela Huebner in
Google Scholar
PubMed
Anette Richter-Unruh
Anette Richter-Unruh
University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany
Search for other papers by Anette Richter-Unruh in
Google Scholar
PubMed
Search for other papers by Anette Richter-Unruh in
Google Scholar
PubMed
Markus Bettendorf
Markus Bettendorf
University Children’s Hospital Heidelberg, Heidelberg, Germany
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Search for other papers by Markus Bettendorf in
Google Scholar
PubMed
Tilman Rohrer
Tilman Rohrer
University Children’s Hospital Homburg, Homburg, Germany
Search for other papers by Tilman Rohrer in
Google Scholar
PubMed
Search for other papers by Tilman Rohrer in
Google Scholar
PubMed
Klaus Kapelari
Klaus Kapelari
University Children’s Hospital Innsbruck, Innsbruck, Austria
Search for other papers by Klaus Kapelari in
Google Scholar
PubMed
Search for other papers by Klaus Kapelari in
Google Scholar
PubMed
Stefan Riedl
Stefan Riedl
Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
Search for other papers by Stefan Riedl in
Google Scholar
PubMed
Klaus Mohnike
Klaus Mohnike
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
Search for other papers by Klaus Mohnike in
Google Scholar
PubMed
Helmuth-Günther Dörr
Helmuth-Günther Dörr
University Children’s Hospital Erlangen, Erlangen, Germany
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Search for other papers by Helmuth-Günther Dörr in
Google Scholar
PubMed
Friedrich-Wilhelm Roehl
Friedrich-Wilhelm Roehl
Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany
Search for other papers by Friedrich-Wilhelm Roehl in
Google Scholar
PubMed
Search for other papers by Friedrich-Wilhelm Roehl in
Google Scholar
PubMed
Katharina Fink
Katharina Fink
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
Search for other papers by Katharina Fink in
Google Scholar
PubMed
Search for other papers by Katharina Fink in
Google Scholar
PubMed
Reinhard W Holl
Reinhard W Holl
Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Search for other papers by Reinhard W Holl in
Google Scholar
PubMed
Joachim Woelfle
Joachim Woelfle
University Children’s Hospital Erlangen, Erlangen, Germany
Search for other papers by Joachim Woelfle in
Google Scholar
PubMed
Search for other papers by Joachim Woelfle in
Google Scholar
PubMed
Introduction Classic congenital adrenal hyperplasia (CAH) is a hereditary autosomal recessive condition affecting adrenal steroidogenesis. Most of the cases (90–95%) are caused by mutations in the 21-hydroxylase gene ( CYP21A2 ) leading to
Qiuli Liu
Qiuli Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Qiuli Liu in
Google Scholar
PubMed
Search for other papers by Qiuli Liu in
Google Scholar
PubMed
Lin-ang Wang
Lin-ang Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Lin-ang Wang in
Google Scholar
PubMed
Search for other papers by Lin-ang Wang in
Google Scholar
PubMed
Jian Su
Jian Su
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
Search for other papers by Jian Su in
Google Scholar
PubMed
Search for other papers by Jian Su in
Google Scholar
PubMed
Dali Tong
Dali Tong
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Dali Tong in
Google Scholar
PubMed
Search for other papers by Dali Tong in
Google Scholar
PubMed
Weihua Lan
Weihua Lan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Weihua Lan in
Google Scholar
PubMed
Search for other papers by Weihua Lan in
Google Scholar
PubMed
Luofu Wang
Luofu Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Luofu Wang in
Google Scholar
PubMed
Search for other papers by Luofu Wang in
Google Scholar
PubMed
Gaolei Liu
Gaolei Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Gaolei Liu in
Google Scholar
PubMed
Search for other papers by Gaolei Liu in
Google Scholar
PubMed
Jun Zhang
Jun Zhang
Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China
Search for other papers by Jun Zhang in
Google Scholar
PubMed
Search for other papers by Jun Zhang in
Google Scholar
PubMed
Victor Wei Zhang
Victor Wei Zhang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
AmCare Genomics Lab, Guangzhou, People’s Republic of China
Search for other papers by Victor Wei Zhang in
Google Scholar
PubMed
AmCare Genomics Lab, Guangzhou, People’s Republic of China
Search for other papers by Victor Wei Zhang in
Google Scholar
PubMed
Dianzheng Zhang
Dianzheng Zhang
Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA
Search for other papers by Dianzheng Zhang in
Google Scholar
PubMed
Search for other papers by Dianzheng Zhang in
Google Scholar
PubMed
Rongrong Chen
Rongrong Chen
Geneplus-Beijing Institute, Beijing, People’s Republic of China
Search for other papers by Rongrong Chen in
Google Scholar
PubMed
Search for other papers by Rongrong Chen in
Google Scholar
PubMed
Qingyi Zhu
Qingyi Zhu
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
Search for other papers by Qingyi Zhu in
Google Scholar
PubMed
Search for other papers by Qingyi Zhu in
Google Scholar
PubMed
Jun Jiang
Jun Jiang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
Search for other papers by Jun Jiang in
Google Scholar
PubMed
Search for other papers by Jun Jiang in
Google Scholar
PubMed
Introduction Congenital adrenal hyperplasia (CAH) is one of the most severe disorders of metabolism with an overall incidence of approximately 1:15,000 worldwide ( 1 ). CAH encompasses a group of enzymatic deficiencies of cortisol synthesis
Catarina I Gonçalves
Catarina I Gonçalves
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal
Search for other papers by Catarina I Gonçalves in
Google Scholar
PubMed
Search for other papers by Catarina I Gonçalves in
Google Scholar
PubMed
José M Aragüés
José M Aragüés
Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal
Search for other papers by José M Aragüés in
Google Scholar
PubMed
Search for other papers by José M Aragüés in
Google Scholar
PubMed
Margarida Bastos
Margarida Bastos
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
Search for other papers by Margarida Bastos in
Google Scholar
PubMed
Search for other papers by Margarida Bastos in
Google Scholar
PubMed
Luísa Barros
Luísa Barros
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
Search for other papers by Luísa Barros in
Google Scholar
PubMed
Search for other papers by Luísa Barros in
Google Scholar
PubMed
Nuno Vicente
Nuno Vicente
Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
Search for other papers by Nuno Vicente in
Google Scholar
PubMed
Search for other papers by Nuno Vicente in
Google Scholar
PubMed
Davide Carvalho
Davide Carvalho
Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal
Search for other papers by Davide Carvalho in
Google Scholar
PubMed
Search for other papers by Davide Carvalho in
Google Scholar
PubMed
Manuel C Lemos
Manuel C Lemos
CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal
Search for other papers by Manuel C Lemos in
Google Scholar
PubMed
Search for other papers by Manuel C Lemos in
Google Scholar
PubMed
Introduction Congenital hypogonadotropic hypogonadism (CHH) is characterised by partial or complete lack of pubertal development, secondary to deficient gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion ( 1 ). Diagnosis is
Shota Dzemaili
Shota Dzemaili
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Search for other papers by Shota Dzemaili in
Google Scholar
PubMed
Search for other papers by Shota Dzemaili in
Google Scholar
PubMed
Jitske Tiemensma
Jitske Tiemensma
University of California Merced, Psychological Science, Merced, CA, USA
Search for other papers by Jitske Tiemensma in
Google Scholar
PubMed
Search for other papers by Jitske Tiemensma in
Google Scholar
PubMed
Richard Quinton
Richard Quinton
Department of Endocrinology, Institute for Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, United Kingdom
Search for other papers by Richard Quinton in
Google Scholar
PubMed
Search for other papers by Richard Quinton in
Google Scholar
PubMed
Nelly Pitteloud
Nelly Pitteloud
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Search for other papers by Nelly Pitteloud in
Google Scholar
PubMed
Search for other papers by Nelly Pitteloud in
Google Scholar
PubMed
Diane Morin
Diane Morin
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Faculty of Nursing Science, Laval University, Québec City, Canada
Search for other papers by Diane Morin in
Google Scholar
PubMed
Faculty of Nursing Science, Laval University, Québec City, Canada
Search for other papers by Diane Morin in
Google Scholar
PubMed
Andrew A Dwyer
Andrew A Dwyer
University of Lausanne, Institute of Higher Education and Research in Healthcare, Lausanne, Switzerland
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Search for other papers by Andrew A Dwyer in
Google Scholar
PubMed
Endocrinology, Diabetes & Metabolism Service of the Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Search for other papers by Andrew A Dwyer in
Google Scholar
PubMed
maintaining the reproductive capacity ( 2 ). Acquired GnRH deficiency (i.e. hypothalamic amenorrhea) is a common cause of secondary amenorrhea that is reversible ( 3 ). More severe forms of GnRH deficiency, such as congenital hypogonadotropic hypogonadism (CHH
Xiaonan Guo
Xiaonan Guo
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Xiaonan Guo in
Google Scholar
PubMed
Search for other papers by Xiaonan Guo in
Google Scholar
PubMed
Wenjing Hu
Wenjing Hu
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Wenjing Hu in
Google Scholar
PubMed
Search for other papers by Wenjing Hu in
Google Scholar
PubMed
Xiaorui Lyu
Xiaorui Lyu
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Xiaorui Lyu in
Google Scholar
PubMed
Search for other papers by Xiaorui Lyu in
Google Scholar
PubMed
Hanyuan Xu
Hanyuan Xu
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Hanyuan Xu in
Google Scholar
PubMed
Search for other papers by Hanyuan Xu in
Google Scholar
PubMed
Huijuan Zhu
Huijuan Zhu
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Huijuan Zhu in
Google Scholar
PubMed
Search for other papers by Huijuan Zhu in
Google Scholar
PubMed
Hui Pan
Hui Pan
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Hui Pan in
Google Scholar
PubMed
Search for other papers by Hui Pan in
Google Scholar
PubMed
Linjie Wang
Linjie Wang
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Linjie Wang in
Google Scholar
PubMed
Search for other papers by Linjie Wang in
Google Scholar
PubMed
Hongbo Yang
Hongbo Yang
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Hongbo Yang in
Google Scholar
PubMed
Search for other papers by Hongbo Yang in
Google Scholar
PubMed
Fengying Gong
Fengying Gong
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Search for other papers by Fengying Gong in
Google Scholar
PubMed
Search for other papers by Fengying Gong in
Google Scholar
PubMed
secondary deficiency of IGF-1 ( 1 ). Several studies have shown that congenital GHD is associated with an increased risk of metabolic syndromes, such as nonalcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), and hyperlipidemia ( 4
Trine Holm Johannsen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
Jakob Albrethsen
Jakob Albrethsen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Jakob Albrethsen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Jakob Albrethsen in
Google Scholar
PubMed
Vassos Neocleous
Vassos Neocleous
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Search for other papers by Vassos Neocleous in
Google Scholar
PubMed
Search for other papers by Vassos Neocleous in
Google Scholar
PubMed
Federico Baronio
Federico Baronio
S. Orsola-Malpighi University Hospital, Department of Medical and Surgical Sciences, Bologna, Italy
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Martine Cools
Martine Cools
Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium
Search for other papers by Martine Cools in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
Lise Aksglaede
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Lise Aksglaede in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Lise Aksglaede in
Google Scholar
PubMed
Niels Jørgensen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Niels Jørgensen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Niels Jørgensen in
Google Scholar
PubMed
Peter Christiansen
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Peter Christiansen in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Peter Christiansen in
Google Scholar
PubMed
Meropi Toumba
Meropi Toumba
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus
Search for other papers by Meropi Toumba in
Google Scholar
PubMed
Pediatric Endocrinology Clinic, Department of Pediatrics, Aretaeio Hospital, Nicosia, Cyprus
Search for other papers by Meropi Toumba in
Google Scholar
PubMed
Pavlos Fanis
Pavlos Fanis
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Function and Therapy, Nicosia, Cyprus
Search for other papers by Pavlos Fanis in
Google Scholar
PubMed
Search for other papers by Pavlos Fanis in
Google Scholar
PubMed
Marie Lindhardt Ljubicic
Marie Lindhardt Ljubicic
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
Anders Juul
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), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
International Centre 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, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
Introduction Congenital adrenal hyperplasia (CAH) is a recessive condition that affects the adrenal glands. The condition occurs in 1 out of 14–18,000 births worldwide ( 1 ). The most common form of CAH results from mutations in the
Chunyun Fu
Chunyun Fu
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Chunyun Fu in
Google Scholar
PubMed
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Chunyun Fu in
Google Scholar
PubMed
Shiyu Luo
Shiyu Luo
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Shiyu Luo in
Google Scholar
PubMed
Search for other papers by Shiyu Luo in
Google Scholar
PubMed
Yingfeng Li
Yingfeng Li
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Yingfeng Li in
Google Scholar
PubMed
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Yingfeng Li in
Google Scholar
PubMed
Qifei Li
Qifei Li
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Qifei Li in
Google Scholar
PubMed
Search for other papers by Qifei Li in
Google Scholar
PubMed
Xuehua Hu
Xuehua Hu
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Xuehua Hu in
Google Scholar
PubMed
Search for other papers by Xuehua Hu in
Google Scholar
PubMed
Mengting Li
Mengting Li
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Mengting Li in
Google Scholar
PubMed
Search for other papers by Mengting Li in
Google Scholar
PubMed
Yue Zhang
Yue Zhang
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Yue Zhang in
Google Scholar
PubMed
Search for other papers by Yue Zhang in
Google Scholar
PubMed
Jiasun Su
Jiasun Su
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Jiasun Su in
Google Scholar
PubMed
Search for other papers by Jiasun Su in
Google Scholar
PubMed
Xuyun Hu
Xuyun Hu
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Xuyun Hu in
Google Scholar
PubMed
Search for other papers by Xuyun Hu in
Google Scholar
PubMed
Yun Chen
Yun Chen
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Yun Chen in
Google Scholar
PubMed
Search for other papers by Yun Chen in
Google Scholar
PubMed
Jin Wang
Jin Wang
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Jin Wang in
Google Scholar
PubMed
Search for other papers by Jin Wang in
Google Scholar
PubMed
Bobo Xie
Bobo Xie
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Bobo Xie in
Google Scholar
PubMed
Search for other papers by Bobo Xie in
Google Scholar
PubMed
Jingsi Luo
Jingsi Luo
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Jingsi Luo in
Google Scholar
PubMed
Search for other papers by Jingsi Luo in
Google Scholar
PubMed
Xin Fan
Xin Fan
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Xin Fan in
Google Scholar
PubMed
Search for other papers by Xin Fan in
Google Scholar
PubMed
Shaoke Chen
Shaoke Chen
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Search for other papers by Shaoke Chen in
Google Scholar
PubMed
Search for other papers by Shaoke Chen in
Google Scholar
PubMed
Yiping Shen
Yiping Shen
Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for other papers by Yiping Shen in
Google Scholar
PubMed
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Search for other papers by Yiping Shen in
Google Scholar
PubMed
Introduction Congenital hypothyroidism (CH) is one of the most common causes of intellectual disability and growth retardation with worldwide incidence ranging from 1:2000 to 1:4000 newborns ( 1 , 2 , 3 ). Newborn screening allows for early
Ingeborg Brønstad
Ingeborg Brønstad
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Ingeborg Brønstad in
Google Scholar
PubMed
Search for other papers by Ingeborg Brønstad in
Google Scholar
PubMed
Lars Breivik
Lars Breivik
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Lars Breivik in
Google Scholar
PubMed
Search for other papers by Lars Breivik in
Google Scholar
PubMed
Paal Methlie
Paal Methlie
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Paal Methlie in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Paal Methlie in
Google Scholar
PubMed
Anette S B Wolff
Anette S B Wolff
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Search for other papers by Anette S B Wolff in
Google Scholar
PubMed
Eirik Bratland
Eirik Bratland
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Search for other papers by Eirik Bratland in
Google Scholar
PubMed
Ingrid Nermoen
Ingrid Nermoen
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Kristian Løvås
Kristian Løvås
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Eystein S Husebye
Eystein S Husebye
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Introduction The CYP21A2 gene encodes the enzyme steroid 21-hydroxylase (21OH), which is essential for steroid synthesis in the adrenal cortex. Mutations in CYP21A2 are the main cause of the autosomal recessive disorder congenital adrenal
Sommayya Aftab
Sommayya Aftab
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Diliara Gubaeva
Diliara Gubaeva
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Jayne A L Houghton
Jayne A L Houghton
The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Antonia Dastamani
Antonia Dastamani
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Ellada Sotiridou
Ellada Sotiridou
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Clare Gilbert
Clare Gilbert
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Sarah E Flanagan
Sarah E Flanagan
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Anatoly Tiulpakov
Anatoly Tiulpakov
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Maria Melikyan
Maria Melikyan
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Pratik Shah
Pratik Shah
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Pratik Shah in
Google Scholar
PubMed
Search for other papers by Pratik Shah in
Google Scholar
PubMed
Introduction Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of congenital hyperinsulinism (CHI) after ABCC8/KCNJ11 mutations. It is caused due to an activating mutation in the GLUD1 gene, which is located
Muriel Houang
Muriel Houang
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Search for other papers by Muriel Houang in
Google Scholar
PubMed
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
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
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
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
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
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Séverine Brabant
Séverine Brabant
Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
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
Search for other papers by Michel Polak in
Google Scholar
PubMed
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Search for other papers by Michel Polak in
Google Scholar
PubMed
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
Search for other papers by Irène Netchine in
Google Scholar
PubMed
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Irène Netchine in
Google Scholar
PubMed
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
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
Introduction The newborn screening program (NBS) for congenital adrenal hyperplasia (CAH) presents a number of issues in the context of the prevention of life-threatening salt wasting crises and subsequent collapse. This neonatal period is
