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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
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
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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decreased in BL patients (45.4 (12–99.5)) in comparison to both UL patients (71.1 (7.0–131.4), P  = 0.0005) and CT subjects (105.3 (22.5–211.3), P  < 0.0001). Finally, CYP17A1-17,20 lyase, evaluated by T60 androstenedione/17OHP ratio, was also lower in BL

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0063
Volume/Issue:
Volume 11: Issue 8
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
Milène Tetsi Nomigni INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sophie Ouzounian INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Alice Benoit INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Jacqueline Vadrot INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Frédérique Tissier INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sylvie Renouf INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Hervé Lefebvre INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Sophie Christin-Maitre INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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Estelle Louiset INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France
INSERM, University of Rouen, Department of Endocrinology, Departments of Endocrinology, Pathology, Department of Pathology, Department of Endocrinology, INSERM, U982, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, Mont‐Saint‐Aignan, France

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′ CYP17A1 NM_000102.3 F: 5′-AGCCGCACACCAACTATCAGTGAC-3′ 134 R: 5′-TCACCGATGCTGGAGTCAACGTTG-3′ CYP21A2 NM_000500.7 F: 5′-GAGTTCTGTGAGCGCA-3′ 201 R: 5′-CACGTCCACAATTTGGAT-3′ CYP11B

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0014
Volume/Issue:
Volume 4: Issue 2
Open access
Michael Ulm University of Tennessee Health Science Center, Memphis, Tennessee, USA
West Cancer Center, Memphis, Tennessee, USA

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Arvind V Ramesh White Station High School, Memphis, Tennessee, USA

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Keely M McNamara Tohoku University, Miyagi, Japan

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Suriyan Ponnusamy University of Tennessee Health Science Center, Memphis, Tennessee, USA

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Hironobu Sasano Tohoku University, Miyagi, Japan

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Ramesh Narayanan University of Tennessee Health Science Center, Memphis, Tennessee, USA
West Cancer Center, Memphis, Tennessee, USA

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, 5α-reductase inhibitors, AR antagonists and androgen-synthesizing enzyme Cyp17A1 inhibitor ( 9 ). PCas that escape from these treatment options will be treated with chemotherapeutic agents such as cabazitaxel or docetaxel ( 10 ). LHRH agonists or

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0425
Volume/Issue:
Volume 8: Issue 2
Open access
L A Hughes West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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K McKay-Bounford West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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E A Webb Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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P Dasani West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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S Clokie West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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H Chandran Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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L McCarthy Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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Z Mohamed Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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J M W Kirk Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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N P Krone Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

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S Allen West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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T R P Cole West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

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–23 WNT4 1p35 WT1 11p13  Disorders of hormone synthesis or action AMH 19p13.3–p13.2 AMHR2 12q13 AR Xq11–q12 CYB5A 18q23 CYP11A1 15q23–24 CYP17A1 10q24.3 DHCR7 11q12–q13 HSD3B2 1p13

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0376
Volume/Issue:
Volume 8: Issue 2
Open access
Jana Ernst Department of Anatomy and Cell Biology, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Grosse Steinstrasse, Halle (Saale), Germany

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Katharina Gert Department of Anatomy and Cell Biology, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Grosse Steinstrasse, Halle (Saale), Germany

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Frank Bernhard Kraus Central Laboratory, University Hospital Halle (Saale), Ernst-Grube-Strasse, Halle (Saale), Germany

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Ulrike Elisabeth Rolle-Kampczyk Department of Molecular Systems Biology, Helmholtz Centre for Environmental Research Leipzig, Leipzig, Germany

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Martin Wabitsch Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany

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Faramarz Dehghani Department of Anatomy and Cell Biology, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Grosse Steinstrasse, Halle (Saale), Germany

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Kristina Schaedlich Department of Anatomy and Cell Biology, Faculty of Medicine, Martin Luther University Halle-Wittenberg, Grosse Steinstrasse, Halle (Saale), Germany

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) as housekeeping gene was determined for the following genes: AR , CYP11A1 , CYP17A1 , CYP19, ER#x03B1; , ERβ , GLUT4 , GPER , GR , HSD3B , HSD11B1 , HSD17B5 , PGR and StAR . The specifications of primers and amplicons are given in Table

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0549
Volume/Issue:
Volume 9: Issue 7
Open access
Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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>T Pathogenic CYP17A1 AR c.666+5G>A VUS 14 M DAA NSDUM WT1 AD c.605T>G p.Leu202Arg D U Likely pathogenic 15 M DAA NSDUM AR XL c.2199C>A p.Asp733Glu D D Pathogenic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0472
Volume/Issue:
Volume 7: Issue 12
Open access