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Piera Rizzolo Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Valentina Silvestri Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Virginia Valentini Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Veronica Zelli Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Agostino Bucalo Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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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 Division of Pathological Anatomy, Department of Sciences of Health, University of Florence, Florence, Italy

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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 Section of Medical Oncology, Department of Surgical and Oncological and Oral Sciences, University of Palermo, Palermo, Italy

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Liliana Varesco IRCCS Ospedale Policlinico San Martino, Genoa, Italy

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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 Division of Cancer Prevention and Genetics IEO, European Institute of Oncology IRCCS, Milan, Italy

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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 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 Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy

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Giuseppe Giannini Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

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Laura Cortesi Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy

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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 Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV – IRCCS, Padua, Italy

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Paolo Peterlongo Genome Diagnostics Program, IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy

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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 Cancer Risk Factors and Lifestyle Epidemiology Unit, Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Florence, Italy

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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

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0225
Volume/Issue:
Volume 8: Issue 8
Open access
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 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 Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China

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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 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 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 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 Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China

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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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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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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 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

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0273
Volume/Issue:
Volume 7: Issue 11
Open access
Fidéline Bonnet-Serrano Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France

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Maxime Barat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France

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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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Anne Jouinot Inserm U1016-CNRS UMR8104, Paris, France

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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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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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Corinne Zientek Hormonology Department, Cochin Hospital, Paris, France

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Catherine Simonneau Hormonology Department, Cochin Hospital, Paris, France

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Etienne Larger Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France

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Laurence Guignat Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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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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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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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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Ioannis Nicolis Université Paris Cité, Paris, France
UR 7537 BioSTM, Paris, France

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Marie-Claude Menet Institut de Chimie Physique, Université Paris-Saclay-CNRS, UMR8000, Orsay, France

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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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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

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0063
Volume/Issue:
Volume 11: Issue 8
Open access
Ingeborg Brønstad Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Lars Breivik Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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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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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 Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Ingrid Nermoen Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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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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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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by signs of hyperandrogenism postnatally and in adulthood, and associated with minor mutations (3) . The most common mutations in the CYP21A2 gene are derived from a non-functional pseudogene CYP21A1P (4) . Both CYP21A2 and CYP21A1P are

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0032
Volume/Issue:
Volume 3: Issue 2
Open access
I Savchuk Department of Women’s and Children’s Health, Pediatric Endocrinology Unit, Karolinska Institute & University Hospital, Stockholm, Sweden

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M L Morvan LUNAM Université, École Nationale Vétérinaire, Agroalimentaire et de l’Alimentation, Nantes-Atlantique (Oniris), Laboratoire d’Étude des Résidus et Contaminants dans les Aliments (LABERCA), USC INRA 1329, Nantes, France

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J P Antignac LUNAM Université, École Nationale Vétérinaire, Agroalimentaire et de l’Alimentation, Nantes-Atlantique (Oniris), Laboratoire d’Étude des Résidus et Contaminants dans les Aliments (LABERCA), USC INRA 1329, Nantes, France

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K Gemzell-Danielsson Department of Obstetrics and Gynecology, Karolinska Institute & University Hospital, Stockholm, Sweden

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B Le Bizec LUNAM Université, École Nationale Vétérinaire, Agroalimentaire et de l’Alimentation, Nantes-Atlantique (Oniris), Laboratoire d’Étude des Résidus et Contaminants dans les Aliments (LABERCA), USC INRA 1329, Nantes, France

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O Söder Department of Women’s and Children’s Health, Pediatric Endocrinology Unit, Karolinska Institute & University Hospital, Stockholm, Sweden

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K Svechnikov Department of Women’s and Children’s Health, Pediatric Endocrinology Unit, Karolinska Institute & University Hospital, Stockholm, Sweden

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, androsterone, androstanediol and DHT by the action of 5α-reductase 1 (SRD5A1), CYP17A1, the family of 3α-HSD1–4 (AKR1C1–4), 17βHSD3 and 17βHSD6 (HSD17B3, HSD17B6) ( 9 , 11 ). Recent studies have reported the presence of a backdoor pathway of DHT synthesis in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0085
Volume/Issue:
Volume 6: Issue 6
Open access
Arpna Sharma Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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Vijay Simha Baddela Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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Frank Becker Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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Dirk Dannenberger Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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Torsten Viergutz Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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Jens Vanselow Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany

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(Bioline, Luckenwalde, Germany) from 200 ng RNA as previously described ( 17 ). Quantitative real-time PCR (qPCR) analysis qPCR was performed using SensiFAST SYBR No-ROX (Bioline, London, UK) with gene-specific primers ( Table 1 ) in a Light Cycler

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0011
Volume/Issue:
Volume 8: Issue 5
Open access
Britt J van Keulen Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Pediatric Endocrinology, Amsterdam, The Netherlands

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Conor V Dolan Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Bibian van der Voorn Department of Pediatric Endocrinology, Sophia Kinderziekenhuis, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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Ruth Andrew Centre for Cardiovascular Science, University of Edinburgh, Queen’s Medical Research Institute, Edinburgh, UK

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Brian R Walker Centre for Cardiovascular Science, University of Edinburgh, Queen’s Medical Research Institute, Edinburgh, UK
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

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Hilleke Hulshoff Pol Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands

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Dorret I Boomsma Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

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Joost Rotteveel Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Pediatric Endocrinology, Amsterdam, The Netherlands

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Martijn J J Finken Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Pediatric Endocrinology, Amsterdam, The Netherlands

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activity is higher in women than in men. However, CYP3A4 is known to eliminate only a small proportion of circulating cortisol ( 16 , 17 ). There is controversy as to whether men and women differ in the activities of 11β-HSDs ( 14 , 18 , 19 , 20

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0123
Volume/Issue:
Volume 9: Issue 6
Open access
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 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 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 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

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0327
Volume/Issue:
Volume 10: Issue 12
Open access
Sarmistha Banerjee Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Allison M Hayes Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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Bernard H Shapiro Department of Biomedical Sciences, University of Pennsylvania, Philadelphia, Pennsylvania, USA

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in CYP expression and resulting drug metabolism observed during adulthood ( 1 , 5 ). Most, if not all, sexual dimorphisms are a result of developmental hormone imprinting. Hormonal imprinting refers to a biological process in which the target

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0143
Volume/Issue:
Volume 10: Issue 9
Open access
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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Caroline M Joyce Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland

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Sumaya Alkanderi Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Liam M Blake Department of Clinical Biochemistry, SUHCG, GUH, Galway, Ireland

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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 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 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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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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John E Gillan Department of Histopathology, SUHCG, GUH, Galway, Ireland

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John J Morrison Department of Obstetrics and Gynaecology, SUHCG, GUH, Galway, Ireland

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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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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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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 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

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0150
Volume/Issue:
Volume 9: Issue 6
Open access