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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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identified in the CYP12A2 gene ( Fig. 2A ). Sanger sequencing of the CYP12A2 gene was conducted in the family members. The brother had the same compound heterozygous mutation as the patient. The patient’s sister exhibited only the c.518T>A, p.I173N

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0273
Volume/Issue:
Volume 7: Issue 11
Open access
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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( 12 , 13 ). To date, only two studies have analyzed a possible role of CYP17A1 rs743572 in MBC risk, with contrasting results ( 14 , 15 ). A higher rs743572 CC genotype frequency among BRCA2 mutation carriers has been observed in a small MBC

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0225
Volume/Issue:
Volume 8: Issue 8
Open access
Sarah Bakhamis Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Faiqa Imtiaz Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Khushnooda Ramzan Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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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 Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Abdulrahman Al-Rajhi Department of Orthopedics, King Saud University Medical City, Riyadh, Saudi Arabia

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Abdullah Alashwal Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Bassam Bin Abbas Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Nadia Sakati Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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Afaf Al-Sagheir Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia

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). Recently, Molin et al. reported two unrelated families from France and Morocco with homozygous CYP2R1 mutations. They reported a new variation c.124_138delinsCGG (p.Gly42_Leu46delinsArg) and the previously published c.296T>C (p.Leu99Pro) mutation ( 12

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0102
Volume/Issue:
Volume 10: Issue 7
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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StAR, CYP11A1 and SULT2A1 were significantly higher in the HFA from GW11–12 then at GW9–10 ( Fig. 2A ). We also observed that the HFA highly expressed CYP17A1 and genes coding P450 oxidoreductase (POR) and microsomal cytochrome b 5 (CYB5A) ( Fig. 2B

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0085
Volume/Issue:
Volume 6: Issue 6
Open access
Robert I Menzies The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Xin Zhao The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Linda J Mullins The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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John J Mullins The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Carolynn Cairns The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Nicola Wrobel The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Donald R Dunbar The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Matthew A Bailey The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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Christopher J Kenyon The University/BHF Centre for Cardiovascular Science, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK

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transduceosome ( 42 ). Although this hypothesis is controversial ( 43 ), of the genes encoding these five proteins, Vdac1 and Prkar1a are upregulated twofold ( P  < 0.001); Star and Acbd3 are slightly increased (1.2-fold, P  < 0.01) and Tspo

Article Type:
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DOI:
https://doi.org/10.1530/EC-17-0092
Volume/Issue:
Volume 6: Issue 7
Open access
Sharon A Huish University Hospitals of Coventry and Warwickshire NHS Trust, Coventry, UK
The University of Warwick, Coventry, UK
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

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Carl Jenkinson The University of Birmingham, Birmingham, UK

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Janet A Dunn The University of Warwick, Coventry, UK

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David J Meredith Royal Devon and Exeter NHS Foundation Trust, Exeter, UK

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Rosemary Bland The University of Warwick, Coventry, UK

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Martin Hewison The University of Birmingham, Birmingham, UK

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enzyme 24-hydroxylase ( CYP24A1 ) ( 11 ). The relative abundance of catabolic vitamin D metabolites such as 24,25(OH) 2 D in patients with CKD has yet to be fully defined, but it is important to recognise that decreased availability of substrate 25(OH

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0372
Volume/Issue:
Volume 10: Issue 10
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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-ring reductases (5α- and 5β-reductase), together with cytochrome P (CYP) 3A4, eliminate cortisol from the circulation primarily in the liver ( 12 ). The 11beta-hydroxysteroid dehydrogenase (11β-HSD) isozymes regulate the interconversion between cortisol and its

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
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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). Briefly, 50 µg of protein were electrophoresed on 1.00 mm-thick SDS-polyacrylamide (10–12%) gels and electroblotted onto nitrocellulose membranes. The blots were probed with monoclonal anti-rat CYP2C11 and anti-rat CYP3A2 (Detroit R & D Inc., Detroit, MI

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0143
Volume/Issue:
Volume 10: Issue 9
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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subfamily A member 1) gene which is located at chromosome 10q24.32 ( 12 ). The expression of CYP17 could be mainly discovered in the adrenal gland, Leydig cells and theca cells ( 13 ). Thus far, a great deal of interest has been shown in single nucleotide

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0327
Volume/Issue:
Volume 10: Issue 12
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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-Epidemiology Collaboration (CKD-EPI) formula ( 12 )) and alkaline phosphatase (ALP) (U/L). Adult participants had urinary Ca 2+ measured (spot and/or 24-hour urine collections). II.3 was unable to attend in person and only had DNA analysis for the CYP24A1 variants. II.1

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