Debra M Gordon
Debra M Gordon
University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa
Search for other papers by Debra M Gordon in
Google Scholar
PubMed
Search for other papers by Debra M Gordon in
Google Scholar
PubMed
Pablo Beckers
Pablo Beckers
Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Pablo Beckers in
Google Scholar
PubMed
Search for other papers by Pablo Beckers in
Google Scholar
PubMed
Emilie Castermans
Emilie Castermans
Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Emilie Castermans in
Google Scholar
PubMed
Search for other papers by Emilie Castermans in
Google Scholar
PubMed
Sebastian J C M M Neggers
Sebastian J C M M Neggers
Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands
Search for other papers by Sebastian J C M M Neggers in
Google Scholar
PubMed
Search for other papers by Sebastian J C M M Neggers in
Google Scholar
PubMed
Liliya Rostomyan
Liliya Rostomyan
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Liliya Rostomyan in
Google Scholar
PubMed
Search for other papers by Liliya Rostomyan in
Google Scholar
PubMed
Vincent Bours
Vincent Bours
Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Vincent Bours in
Google Scholar
PubMed
Search for other papers by Vincent Bours in
Google Scholar
PubMed
Patrick Petrossians
Patrick Petrossians
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Patrick Petrossians in
Google Scholar
PubMed
Search for other papers by Patrick Petrossians in
Google Scholar
PubMed
Vinciane Dideberg
Vinciane Dideberg
Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Vinciane Dideberg in
Google Scholar
PubMed
Search for other papers by Vinciane Dideberg in
Google Scholar
PubMed
Albert Beckers
Albert Beckers
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Albert Beckers in
Google Scholar
PubMed
Search for other papers by Albert Beckers in
Google Scholar
PubMed
Adrian F Daly
Adrian F Daly
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium
Search for other papers by Adrian F Daly in
Google Scholar
PubMed
Search for other papers by Adrian F Daly in
Google Scholar
PubMed
sequencing for genes of interest: multiplex ligand-dependent probe amplification (MLPA) was used to assess for the presence of whole or partial gene deletions. The panel of genes assessed included: AIP , MEN1 , CDKN1B , SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL
Sofia Maria Lider Burciulescu
Sofia Maria Lider Burciulescu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Sofia Maria Lider Burciulescu in
Google Scholar
PubMed
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Sofia Maria Lider Burciulescu in
Google Scholar
PubMed
Monica Livia Gheorghiu
Monica Livia Gheorghiu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Monica Livia Gheorghiu in
Google Scholar
PubMed
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Monica Livia Gheorghiu in
Google Scholar
PubMed
Andrei Muresan
Andrei Muresan
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Andrei Muresan in
Google Scholar
PubMed
Search for other papers by Andrei Muresan in
Google Scholar
PubMed
Iuliana Gherlan
Iuliana Gherlan
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Iuliana Gherlan in
Google Scholar
PubMed
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Iuliana Gherlan in
Google Scholar
PubMed
Attila Patocs
Attila Patocs
Department of Laboratory Medicine and Molecular Genetics, Clinical Genetics and Endocrinology Laboratory, Semmelweis University National Institute of Oncology, Budapest, Hungary
Search for other papers by Attila Patocs in
Google Scholar
PubMed
Search for other papers by Attila Patocs in
Google Scholar
PubMed
Corin Badiu
Corin Badiu
University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Corin Badiu in
Google Scholar
PubMed
National Institute of Endocrinology CI Parhon, Bucharest, Romania
Search for other papers by Corin Badiu in
Google Scholar
PubMed
frequently described in the syndromes of multiple endocrine neoplasia (MEN) type 2A and type 2B, in certain families with von Hippel–Lindau disease ( VHL ) or in patients with MAX and TMEM127 gene mutation ( 3 , 7 ). Not all bilateral PHEOs are
Emily Warmington
Emily Warmington
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Search for other papers by Emily Warmington in
Google Scholar
PubMed
Search for other papers by Emily Warmington in
Google Scholar
PubMed
Gabrielle Smith
Gabrielle Smith
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Search for other papers by Gabrielle Smith in
Google Scholar
PubMed
Search for other papers by Gabrielle Smith in
Google Scholar
PubMed
Vasileios Chortis
Vasileios Chortis
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Search for other papers by Vasileios Chortis in
Google Scholar
PubMed
Search for other papers by Vasileios Chortis in
Google Scholar
PubMed
Raimunde Liang
Raimunde Liang
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Department of Neurosurgery, Technical University Munich (TMU), Munich, Germany
Search for other papers by Raimunde Liang in
Google Scholar
PubMed
Department of Neurosurgery, Technical University Munich (TMU), Munich, Germany
Search for other papers by Raimunde Liang in
Google Scholar
PubMed
Juliane Lippert
Juliane Lippert
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Search for other papers by Juliane Lippert in
Google Scholar
PubMed
Search for other papers by Juliane Lippert in
Google Scholar
PubMed
Sonja Steinhauer
Sonja Steinhauer
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Search for other papers by Sonja Steinhauer in
Google Scholar
PubMed
Search for other papers by Sonja Steinhauer in
Google Scholar
PubMed
Laura-Sophie Landwehr
Laura-Sophie Landwehr
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Search for other papers by Laura-Sophie Landwehr in
Google Scholar
PubMed
Search for other papers by Laura-Sophie Landwehr in
Google Scholar
PubMed
Constanze Hantel
Constanze Hantel
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ) and University of Zurich (UZH), Zurich, Switzerland
Medizinische Klinik Und Poliklinik III, University Hospital Carl Gustav Carus, Dresden, Germany
Search for other papers by Constanze Hantel in
Google Scholar
PubMed
Medizinische Klinik Und Poliklinik III, University Hospital Carl Gustav Carus, Dresden, Germany
Search for other papers by Constanze Hantel in
Google Scholar
PubMed
Katja Kiseljak-Vassiliades
Katja Kiseljak-Vassiliades
Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Search for other papers by Katja Kiseljak-Vassiliades in
Google Scholar
PubMed
Search for other papers by Katja Kiseljak-Vassiliades in
Google Scholar
PubMed
Margaret E Wierman
Margaret E Wierman
Division of Endocrinology Metabolism and Diabetes, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Search for other papers by Margaret E Wierman in
Google Scholar
PubMed
Search for other papers by Margaret E Wierman in
Google Scholar
PubMed
Barbara Altieri
Barbara Altieri
Division of Endocrinology and Diabetes, University Hospital of Wuerzburg, Wuerzburg, Germany
Search for other papers by Barbara Altieri in
Google Scholar
PubMed
Search for other papers by Barbara Altieri in
Google Scholar
PubMed
Paul A Foster
Paul A Foster
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Search for other papers by Paul A Foster in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Search for other papers by Paul A Foster in
Google Scholar
PubMed
Cristina L Ronchi
Cristina L Ronchi
Institute of Metabolism and System Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Search for other papers by Cristina L Ronchi in
Google Scholar
PubMed
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK
Search for other papers by Cristina L Ronchi in
Google Scholar
PubMed
also inhibits p53-dependent transcriptional activation and pro-apoptotic activity, and, in turn, p53 represses PLK1 expression itself ( Fig. 1 ) ( 13 ). Overexpression of PLK1 at gene level has been reported to be associated with worse clinical
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
-032148 ) 26 Jørgensen N Liu F Andersson AM Vierula M Irvine DS Auger J Brazil CK Drobnis EZ Jensen TK Jouannet P , et al . Serum inhibin-b in fertile men is strongly correlated with low but not high sperm counts: a coordinated study of 1
Natacha Driessens
Natacha Driessens
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
Search for other papers by Natacha Driessens in
Google Scholar
PubMed
Search for other papers by Natacha Driessens in
Google Scholar
PubMed
Madhu Prasai
Madhu Prasai
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
Search for other papers by Madhu Prasai in
Google Scholar
PubMed
Search for other papers by Madhu Prasai in
Google Scholar
PubMed
Orsalia Alexopoulou
Orsalia Alexopoulou
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
Search for other papers by Orsalia Alexopoulou in
Google Scholar
PubMed
Search for other papers by Orsalia Alexopoulou in
Google Scholar
PubMed
Christophe De Block
Christophe De Block
Department of Endocrinology-Diabetology-Metabolism, Universitair Ziekenhuis Antwerpen & University of Antwerp, Drie Eikenstraat, Edegem, Belgium
Search for other papers by Christophe De Block in
Google Scholar
PubMed
Search for other papers by Christophe De Block in
Google Scholar
PubMed
Eva Van Caenegem
Eva Van Caenegem
Department of Endocrinology, Academisch Ziekenhuis Sint-Jan Brugge – Oostende AV, Ruddershove, Brugge, Belgium
Search for other papers by Eva Van Caenegem in
Google Scholar
PubMed
Search for other papers by Eva Van Caenegem in
Google Scholar
PubMed
Guy T’Sjoen
Guy T’Sjoen
Department of Endocrinology, Ghent Universitary Hospital, C. Heymanslaan, Gent, Belgium
Search for other papers by Guy T’Sjoen in
Google Scholar
PubMed
Search for other papers by Guy T’Sjoen in
Google Scholar
PubMed
Frank Nobels
Frank Nobels
Department of Endocrinology, Onze-Lieve Vrouw Ziekenhuis, Moorselbaan, Aalst, Belgium
Search for other papers by Frank Nobels in
Google Scholar
PubMed
Search for other papers by Frank Nobels in
Google Scholar
PubMed
Christophe Ghys
Christophe Ghys
Department of Endocrinology, Universitair Ziekenhuis Brussel, Laarbeeklaan, Brussels, Belgium
Search for other papers by Christophe Ghys in
Google Scholar
PubMed
Search for other papers by Christophe Ghys in
Google Scholar
PubMed
Laurent Vroonen
Laurent Vroonen
Department of Endocrinology, Cliniques Universitaires de Liège, Avenue de l’hôpital, Liège, Belgium
Search for other papers by Laurent Vroonen in
Google Scholar
PubMed
Search for other papers by Laurent Vroonen in
Google Scholar
PubMed
Corinne Jonas
Corinne Jonas
Department of Endocrinology, CHU UCL Namur - Godinne, Avenue Docteur Gaston Thérasse, Yvoir, Belgium
Search for other papers by Corinne Jonas in
Google Scholar
PubMed
Search for other papers by Corinne Jonas in
Google Scholar
PubMed
Bernard Corvilain
Bernard Corvilain
Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Department of Endocrinology, Route de Lennik, Brussels, Belgium
Search for other papers by Bernard Corvilain in
Google Scholar
PubMed
Search for other papers by Bernard Corvilain in
Google Scholar
PubMed
Dominique Maiter
Dominique Maiter
Department of Endocrinology, Cliniques Universitaires Saint Luc, Brussels, Belgium
Search for other papers by Dominique Maiter in
Google Scholar
PubMed
Search for other papers by Dominique Maiter in
Google Scholar
PubMed
adjusted P < 0.0001). Genetic variations Among this group of 17 patients, the commonest genetic variation was due to variants of the ABCD1 gene (X-linked adrenoleukodystrophy, n = 9), followed by DAX1 mutation ( n = 3) and mutation in the
Annelies van’t Westeinde
Annelies van’t Westeinde
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Annelies van’t Westeinde in
Google Scholar
PubMed
Search for other papers by Annelies van’t Westeinde in
Google Scholar
PubMed
Leif Karlsson
Leif Karlsson
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Leif Karlsson in
Google Scholar
PubMed
Search for other papers by Leif Karlsson in
Google Scholar
PubMed
Valeria Messina
Valeria Messina
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Valeria Messina in
Google Scholar
PubMed
Search for other papers by Valeria Messina in
Google Scholar
PubMed
Lena Wallensteen
Lena Wallensteen
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Lena Wallensteen in
Google Scholar
PubMed
Search for other papers by Lena Wallensteen in
Google Scholar
PubMed
Manuela Brösamle
Manuela Brösamle
European Patient Advocacy Group for Adrenal Diseases, European Reference Network on Rare Endocrine Conditions (Endo ERN), Endo ERN Coordinating Centre, Leiden, The Netherlands
Search for other papers by Manuela Brösamle in
Google Scholar
PubMed
Search for other papers by Manuela Brösamle in
Google Scholar
PubMed
Giorgio Dal Maso
Giorgio Dal Maso
ArfSAG (Associazione Refionale Famiglie Sindrome Adreno Genitale) c/o Unita Operativa di Pediatria, Azienda Ospedaliero Universitaria di Bologna, Policlinico S Orsala-Malpighi, Bologna, Italy
Search for other papers by Giorgio Dal Maso in
Google Scholar
PubMed
Search for other papers by Giorgio Dal Maso in
Google Scholar
PubMed
Alessandro Lazzerini
Alessandro Lazzerini
Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain
Search for other papers by Alessandro Lazzerini in
Google Scholar
PubMed
Search for other papers by Alessandro Lazzerini in
Google Scholar
PubMed
Jette Kristensen
Jette Kristensen
ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark
Search for other papers by Jette Kristensen in
Google Scholar
PubMed
Search for other papers by Jette Kristensen in
Google Scholar
PubMed
Diana Kwast
Diana Kwast
Dutch Adrenal Society NVACP, Nijkerk, The Netherlands
Search for other papers by Diana Kwast in
Google Scholar
PubMed
Search for other papers by Diana Kwast in
Google Scholar
PubMed
Lea Tschaidse
Lea Tschaidse
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Lea Tschaidse in
Google Scholar
PubMed
Search for other papers by Lea Tschaidse in
Google Scholar
PubMed
Matthias K Auer
Matthias K Auer
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Matthias K Auer in
Google Scholar
PubMed
Search for other papers by Matthias K Auer in
Google Scholar
PubMed
Hanna F Nowotny
Hanna F Nowotny
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Hanna F Nowotny in
Google Scholar
PubMed
Search for other papers by Hanna F Nowotny in
Google Scholar
PubMed
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Nicole Reisch
Nicole Reisch
Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Svetlana Lajic
Svetlana Lajic
Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Svetlana Lajic in
Google Scholar
PubMed
Search for other papers by Svetlana Lajic in
Google Scholar
PubMed
Introduction Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency occurs in around 1:10,000–1:15,000 newborns ( 1 , 2 , 3 , 4 , 5 ). It is caused by mutations in the CYP21A2 gene coding for the 21-OH enzyme
Deirdre Green
Deirdre Green
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
Search for other papers by Deirdre Green in
Google Scholar
PubMed
Search for other papers by Deirdre Green in
Google Scholar
PubMed
Rosemary Dineen
Rosemary Dineen
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
Search for other papers by Rosemary Dineen in
Google Scholar
PubMed
Search for other papers by Rosemary Dineen in
Google Scholar
PubMed
Michael W O’Reilly
Michael W O’Reilly
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
Search for other papers by Michael W O’Reilly in
Google Scholar
PubMed
Search for other papers by Michael W O’Reilly in
Google Scholar
PubMed
Mark Sherlock
Mark Sherlock
Academic Department of Endocrinology, Beaumont Hospital and the Royal College of Surgeons in Ireland, Dublin
Search for other papers by Mark Sherlock in
Google Scholar
PubMed
Search for other papers by Mark Sherlock in
Google Scholar
PubMed
-hydroxylase deficiency (21-OHD) due to mutations in the 21-hydroxylase (CYP21A2) gene ( 62 ). Other virilising forms include 3β-hydroxysteroid dehydrogenase (3β-HSD) and 11β-hydroxylase (11β-OH) deficiencies associated with mutations in the HSD3B2 and CYP11B1
