Sarmistha Banerjee
Sarmistha Banerjee
Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Allison M Hayes
Allison M Hayes
Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Bernard H Shapiro
Bernard H Shapiro
Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA
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Introduction Sexual dimorphisms of some dozen or more hormone- and drug-metabolizing constituent cytochromes P450 (CYPs) observed in rats, humans, and many other species examined ( 1 ) are defined by two characteristics. (i) Following puberty
Piera Rizzolo
Piera Rizzolo
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Valentina Silvestri
Valentina Silvestri
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Virginia Valentini
Virginia Valentini
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Veronica Zelli
Veronica Zelli
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Agostino Bucalo
Agostino Bucalo
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Ines Zanna
Ines Zanna
Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy
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Simonetta Bianchi
Simonetta Bianchi
Division of Pathological Anatomy, Department of Sciences of Health, University of Florence, Florence, Italy
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Maria Grazia Tibiletti
Maria Grazia Tibiletti
Department of Pathology, ASST Settelaghi and Centro di Ricerca per lo Studio dei Tumori Eredo-Familiari, Università dell’Insubria, Varese, Italy
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Antonio Russo
Antonio Russo
Section of Medical Oncology, Department of Surgical and Oncological and Oral Sciences, University of Palermo, Palermo, Italy
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Liliana Varesco
Liliana Varesco
IRCCS Ospedale Policlinico San Martino, Genoa, Italy
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Gianluca Tedaldi
Gianluca Tedaldi
Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy
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Bernardo Bonanni
Bernardo Bonanni
Division of Cancer Prevention and Genetics IEO, European Institute of Oncology IRCCS, Milan, Italy
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Jacopo Azzollini
Jacopo Azzollini
Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy
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Siranoush Manoukian
Siranoush Manoukian
Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy
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Anna Coppa
Anna Coppa
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy
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Giuseppe Giannini
Giuseppe Giannini
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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Laura Cortesi
Laura Cortesi
Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy
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Alessandra Viel
Alessandra Viel
Unit of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy
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Marco Montagna
Marco Montagna
Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy
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Paolo Peterlongo
Paolo Peterlongo
Genome Diagnostics Program, IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy
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Paolo Radice
Paolo Radice
Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy
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Domenico Palli
Domenico Palli
Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy
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Laura Ottini
Laura Ottini
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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in genes involved in estrogen biosynthesis and metabolism pathways, such as Cytochrome P450 family 17 subfamily A member 1 ( CYP17A1 ) and Cytochrome P450 family 1 subfamily B member 1 ( CYP1B1 ), may cause an increased risk of hormone-related cancers
Marianna Viukari
Marianna Viukari
Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
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Helena Leijon
Helena Leijon
Department of Pathology, University of Helsinki and HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland
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Tiina Vesterinen
Tiina Vesterinen
Department of Pathology, University of Helsinki and HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland
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Sanni Söderlund
Sanni Söderlund
Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
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Päivi Hämäläinen
Päivi Hämäläinen
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
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Iina Yliaska
Iina Yliaska
Medical Research Center Oulu, Oulu University Hospital and Research Unit of Internal Medicine, University of Oulu, Oulu, Finland
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Päivi Rautiainen
Päivi Rautiainen
Joint Municipal Authority for North Karelia Social and Health Services (Siun Sote), Joensuu, Finland
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Reeta Rintamäki
Reeta Rintamäki
Department of Endocrinology and Clinical Nutrition, Kuopio University Hospital, Kuopio, Finland
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Minna Soinio
Minna Soinio
Department of Endocrinology, Turku University Hospital, Turku, Finland
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Ilkka Pörsti
Ilkka Pörsti
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
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Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
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Pasi I Nevalainen
Pasi I Nevalainen
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
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Niina Matikainen
Niina Matikainen
Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
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consensus recommends that the histopathological diagnosis of PA should be based on morphology using H&E staining plus immunohistochemistry using CYP11B2 staining to verify the presence of autonomous aldosterone secretion ( 8 , 9 ). HISTALDO unified the
Xingyan Liu
Xingyan Liu
Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China
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Mei Xu
Mei Xu
Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China
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Min Qian
Min Qian
Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China
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Lindong Yang
Lindong Yang
Department of Obstetrics & Gynecology, General Hospital of PLA Eastern Theater (Nanjing General Hospital of Nanjing Military Command), Command, Nanjing, China
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augmented with which compared normal women by isolation and cultivation of theca cells ( 8 , 9 ). The excess biosynthesis of androgen in PCOS was attributed to the enhanced expression of steroid-17-α-hydroxylase/17,20 lyase (CYP17A1 gene) in theca cells
Tomás P Griffin
Tomás P Griffin
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
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Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
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Caroline M Joyce
Caroline M Joyce
Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland
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Sumaya Alkanderi
Sumaya Alkanderi
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
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Liam M Blake
Liam M Blake
Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland
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Derek T O’Keeffe
Derek T O’Keeffe
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
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Delia Bogdanet
Delia Bogdanet
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
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Md Nahidul Islam
Md Nahidul Islam
Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland
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Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland
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Michael C Dennedy
Michael C Dennedy
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Lambe Institute for Translational Research, School of Medicine, NUIG, Galway, Ireland
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Lambe Institute for Translational Research, School of Medicine, NUIG, Galway, Ireland
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John E Gillan
John E Gillan
Department of Histopathology, SUHCG, GUH, Galway, Ireland
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John J Morrison
John J Morrison
Department of Obstetrics and Gynaecology, SUHCG, GUH, Galway, Ireland
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Timothy O’Brien
Timothy O’Brien
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
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Regenerative Medicine Institute at CÚRAM SFI Research Centre, School of Medicine, National University of Ireland Galway (NUIG), Galway, Ireland
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John A Sayer
John A Sayer
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK
NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK
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Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK
NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK
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Marcia Bell
Marcia Bell
Centre for Endocrinology, Diabetes and Metabolism, Saolta University Health Care Group (SUHCG), Galway University Hospitals (GUH), Galway, Ireland
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Paula M O’Shea
Paula M O’Shea
Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland
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series of reactions in the liver and kidneys to generate the active form ( 5 ). In the liver, vitamin D3 is hydroxylated to form the prehormone 25-hydroxycholecalciferol D (25(OH)D 3 ) catalysed primarily by CYP2R1 with CYP27A1 possibly contributing
Ingeborg Brønstad
Ingeborg Brønstad
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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Lars Breivik
Lars Breivik
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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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
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Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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Anette S B Wolff
Anette S B Wolff
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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Eirik Bratland
Eirik Bratland
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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Ingrid Nermoen
Ingrid Nermoen
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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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
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Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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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
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Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
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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
Sarah Bakhamis
Sarah Bakhamis
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Faiqa Imtiaz
Faiqa Imtiaz
Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Khushnooda Ramzan
Khushnooda Ramzan
Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Edward De Vol
Edward De Vol
Department of Biostatistics, Epidemiology & Scientific Computing, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Osamah Al-Sagheir
Osamah Al-Sagheir
Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Abdulrahman Al-Rajhi
Abdulrahman Al-Rajhi
Department of Orthopedics, King Saud University Medical City, Riyadh, Saudi Arabia
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Abdullah Alashwal
Abdullah Alashwal
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Bassam Bin Abbas
Bassam Bin Abbas
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Nadia Sakati
Nadia Sakati
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Afaf Al-Sagheir
Afaf Al-Sagheir
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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). A mutation in the CYP27B1 gene, which catalyzes the 1α-hydroxylase enzyme, can prompt the inability to synthesize the active form of vitamin D (1,25-[OH]2 D3), which results in vitamin D-dependent rickets type 1A (VDDR1A, MIM264700). Mutation in
Qiuli Liu
Qiuli Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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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
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Jian Su
Jian Su
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
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Dali Tong
Dali Tong
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Weihua Lan
Weihua Lan
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Luofu Wang
Luofu Wang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Gaolei Liu
Gaolei Liu
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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Jun Zhang
Jun Zhang
Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China
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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
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AmCare Genomics Lab, Guangzhou, People’s Republic of China
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Dianzheng Zhang
Dianzheng Zhang
Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA
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Rongrong Chen
Rongrong Chen
Geneplus-Beijing Institute, Beijing, People’s Republic of China
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Qingyi Zhu
Qingyi Zhu
Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China
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Jun Jiang
Jun Jiang
Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China
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. Six cytochrome P450 (CYP) enzymes including CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1 and CYP21A2 are involved in the synthesis of steroid hormones. Although deficiencies of any of these enzymes can result in CAH ( 3 ), CYP21A2 deficiency (21OHD
Fidéline Bonnet-Serrano
Fidéline Bonnet-Serrano
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
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Maxime Barat
Maxime Barat
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France
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Anna Vaczlavik
Anna Vaczlavik
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Anne Jouinot
Anne Jouinot
Inserm U1016-CNRS UMR8104, Paris, France
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Lucas Bouys
Lucas Bouys
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Christelle Laguillier-Morizot
Christelle Laguillier-Morizot
Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France
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Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France
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Corinne Zientek
Corinne Zientek
Hormonology Department, Cochin Hospital, Paris, France
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Catherine Simonneau
Catherine Simonneau
Hormonology Department, Cochin Hospital, Paris, France
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Etienne Larger
Etienne Larger
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France
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Laurence Guignat
Laurence Guignat
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Lionel Groussin
Lionel Groussin
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Guillaume Assié
Guillaume Assié
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Jean Guibourdenche
Jean Guibourdenche
Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France
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Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France
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Ioannis Nicolis
Ioannis Nicolis
Université Paris Cité, Paris, France
UR 7537 BioSTM, Paris, France
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UR 7537 BioSTM, Paris, France
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Marie-Claude Menet
Marie-Claude Menet
Institut de Chimie Physique, Université Paris-Saclay-CNRS, UMR8000, Orsay, France
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Jérôme Bertherat
Jérôme Bertherat
Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France
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precursor, located upstream of the deficient enzyme. In this context, CYP21A2 enzyme is the most frequently affected in patients with congenital adrenal hyperplasia (CAH), leading to an excessive response of 17-hydroxyprogesterone (17OHP) to ACTH1-24. In
Julia H Goedecke
Julia H Goedecke
Non-communicable Diseases Research Unit, South African Medical Research Council, Cape Town, South Africa
Division of Exercise Science and Sport Medicine, Department of Human Biology, University of Cape Town, 3 Floor Sports Science Institute of South Africa Cape Town, South Africa
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Division of Exercise Science and Sport Medicine, Department of Human Biology, University of Cape Town, 3 Floor Sports Science Institute of South Africa Cape Town, South Africa
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Mehreen Tootla
Mehreen Tootla
Division of Exercise Science and Sport Medicine, Department of Human Biology, University of Cape Town, 3 Floor Sports Science Institute of South Africa Cape Town, South Africa
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Dheshnie Keswell
Dheshnie Keswell
Division of Exercise Science and Sport Medicine, Department of Human Biology, University of Cape Town, 3 Floor Sports Science Institute of South Africa Cape Town, South Africa
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comprises both visceral (VAT) and subcutaneous adipose tissue (SAT), is commonly associated with increased cardiometabolic risk, whereas lower-body gluteo-femoral fat accumulation may be protective ( 4 , 5 ). Within adipose tissue, aromatase ( CYP19A1
