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Angelo Maria Patti Department of Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy

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Kalliopi Pafili Diabetes Centre, Second Department of Internal Medicine, Democritus University of Thrace, University Hospital of Alexandroupolis, Alexandroupolis, Greece

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Nikolaos Papanas Diabetes Centre, Second Department of Internal Medicine, Democritus University of Thrace, University Hospital of Alexandroupolis, Alexandroupolis, Greece

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Manfredi Rizzo Department of Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy

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Introduction There are several pregnancy indices of hormonal changes (such as oestrogens, progesterone, corticotropin-releasing hormone, cortisol, human placental growth hormone and human placental lactogen) that are implicated in the

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Lachlan Angus Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia

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Shalem Leemaqz Robinson Research Institute, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia

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Olivia Ooi Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia

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Pauline Cundill Equinox Gender Diverse Clinic, Thorne Harbour Health, Fitzroy, Victoria, Australia

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Nicholas Silberstein Equinox Gender Diverse Clinic, Thorne Harbour Health, Fitzroy, Victoria, Australia

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Peter Locke Equinox Gender Diverse Clinic, Thorne Harbour Health, Fitzroy, Victoria, Australia

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Jeffrey D Zajac Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia

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Ada S Cheung Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, Victoria, Australia

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progesterone receptor which, similar to oestradiol treatment, causes further negative feedback to suppress GnRH and gonadotropins at the hypothalamus and pituitary respectively to lower testosterone production ( 16 , 17 ). As spironolactone may potentially

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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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-hydroxylase, which catalyzes the 17α-hydroxylation of pregnenolone and progesterone and the 17,20-cleavage of the corresponding hydroxylated steroids ( 5 ). CYP17A1 deficiency leads to the impaired synthesis of both glucocorticoids and androgen, resulting in

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Bledar Daka Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden
Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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Thord Rosen Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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Per Anders Jansson Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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Lennart Råstam Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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Charlotte A Larsson Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden
Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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Ulf Lindblad Department of Internal Medicine, Department of Clinical Sciences Malmö, Social Medicine and Global Health, University of Gothenburg, PO Box 454, SE-405 30 Gothenburg, Sweden

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as leisure time physical activity. Women on treatment with contraceptives and hormonal replacement therapy (progesterone alone, oestrogen alone or the combination) were excluded from analyses (remaining women=1002). Standard instruments were also used

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Jennifer K Y Ko Department of Women’s Health, University College London Hospital, London, UK

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Thomas F J King Department of Women’s Health, University College London Hospital, London, UK

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Louise Williams Department of Women’s Health, University College London Hospital, London, UK

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Sarah M Creighton Department of Women’s Health, University College London Hospital, London, UK

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Gerard S Conway Department of Women’s Health, University College London Hospital, London, UK

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use of testosterone, which in this situation is used as a prohormone providing oestradiol via aromatisation. As women with CAIS do not have a uterus, progesterone is not required. Based on our clinical experience, interest in the use of testosterone

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Sophie Howarth Clinical and Translational Research Institute, Newcastle University, Newcastle upon Tyne, UK
Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Luca Giovanelli Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Catherine Napier Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Simon H Pearce Clinical and Translational Research Institute, Newcastle University, Newcastle upon Tyne, UK
Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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reference range (0 min = 309 nmol/L, 30 min = 323 nmol/L, 60 min = 344 nmol/L, on a progesterone only contraceptive pill), and hydrocortisone 15 mg daily in a split dose was started ( Table 1 ). However, she quickly developed ankle swelling which resolved

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Timothy J Morris Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK
Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK

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Andrew Whatmore Division of Developmental Biology and Medicine, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK

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Laura Hamilton Pathology Department, Clinical Biochemistry, Huddersfield Royal Infirmary, Lindley, Huddersfield, UK

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Beverly Hird Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Eric S Kilpatrick Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Lesley Tetlow Directorate of Biochemistry, Manchester University NHS Foundation Trust, Manchester, UK

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Peter Clayton Division of Developmental Biology and Medicine, University of Manchester, Royal Manchester Children’s Hospital, Manchester, UK

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present for plasma sodium ( Table 3 ). Table 3 Correlations between renin MoU, electrolytes, 17α-OH-progesterone and fludrocortisone dose. Sodium Potassium 17α-OHP Fludrocortisone dose Post-clinic fludrocortisone dose

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Efstratios Kardalas Department of Endocrinology and Diabetes, Evangelismos Hospital, Athens, Greece

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Stavroula A Paschou Division of Endocrinology and Diabetes, ‘Aghia Sophia’ Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Panagiotis Anagnostis Unit of Reproductive Endocrinology, First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece

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Giovanna Muscogiuri Division of Endocrinology, Department of Clinical Medicine and Surgery, ‘Federico II’ University of Naples, Naples, Italy

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Gerasimos Siasos First Department of Cardiology, Hippokration Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Andromachi Vryonidou Department of Endocrinology and Diabetes, Hellenic Red Cross Hospital, Athens, Greece

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hypertension in patients with this condition because of elevated progesterone levels and altered specificity of the MR receptor with progesterone and traditional MR antagonists now acting as potent MR agonists. The biochemical profile includes normal potassium

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Dorte Glintborg Department of Endocrinology, Odense University Hospital, Odense, Denmark
Institute of Clinical Research, University of Southern Denmark, Odense, Denmark

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Katrine Hass Rubin OPEN – Odense Patient data Explorative Network, Department of Clinical Research, University of Southern Denmark and Odense University Hospital, Odense, Denmark

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Mads Nybo Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Odense, Denmark

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Bo Abrahamsen OPEN – Odense Patient data Explorative Network, Department of Clinical Research, University of Southern Denmark and Odense University Hospital, Odense, Denmark
Department of Medicine, Holbæk Hospital, Holbæk, Denmark

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Marianne Andersen Department of Endocrinology, Odense University Hospital, Odense, Denmark
Institute of Clinical Research, University of Southern Denmark, Odense, Denmark

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-grade inflammation and unbalanced estrogen/progesterone secretion in PCOS could have adverse effects on autoimmune function ( 7 , 8 ). In accordance, women with PCOS had higher secretion of anti-thyroid, anti-nuclear (ANA), anti-ovarian, and anti-islet cell

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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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cholesterol disposal and lipid biosynthesis form a separate larger cluster. It is notable that genes encoding enzymes that metabolise steroids were also affected. Akr1c18 , which encodes a progesterone 20α hydroxysteroid dehydrogenase enzyme was switched on

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