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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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’ pathway that bypasses the conventional intermediates androstenedione and testosterone ( 8 , 9 , 10 ). In this pathway, progesterone and 17OH-progesterone are subsequently converted to dihydroprogesterone (DHP), allopregnanolone, 17-OH allopregnanolone

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Emmanuelle Noirrit Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
Faculté de Chirurgie Dentaire, Université de Toulouse III, Toulouse, France

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Mélissa Buscato Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

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Marion Dupuis Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

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Bernard Payrastre Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
CHU de Toulouse, Laboratoire d’Hématologie, Toulouse, France

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Coralie Fontaine Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

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Jean-François Arnal Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France

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Marie-Cécile Valera Inserm U1048 (I2MC), CHU de Toulouse and Université Toulouse III, I2MC, Toulouse, France
Faculté de Chirurgie Dentaire, Université de Toulouse III, Toulouse, France

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Introduction Menopause is defined as the permanent cessation of menstruation and ovulation due to ovarian failure. The decline in estrogen and progesterone levels in women can lead to a number of bothersome symptoms. The most common include

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Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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a 17OH-progesterone (17OH-P) plasma level contrasting with an elevated 17OH-pregnenolone (17OH-Preg), suggesting a 3b-HSD deficiency ( Fig. 1 ). This patient’s phenotype at birth has been previously reported by Moisan and coworkers ( 5 ). HSD3B2

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Chan Sub Park Department of Breast and Thyroid Surgery, Kyungpook National University Chilgok Hospital, Buk-gu, Daegu, Republic of Korea

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Jihye Choi Department of General Surgery, National Medical Center, Jung-gu, Seoul, Republic of Korea

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Min-Ki Seong Department of Surgery, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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Sung-Eun Hong Radiation Medicine Clinical Research Division, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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Jae-Sung Kim Radiation Medicine Clinical Research Division, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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In-Chul Park Division of Fusion Radiology Research, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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Hyesil Seol Department of Pathology, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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Woo Chul Noh Department of Surgery, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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Hyun-Ah Kim Department of Surgery, Korea Cancer Center Hospital, Korea Institute of Radiological and Medical Sciences, Nowon-gu, Seoul, Republic of Korea

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(IRB No. 2017-12-010). Informed consent was waived because this was retrospective study. Immunohistochemical staining of the estrogen, progesterone and HER2 receptors, and pS6K1 was performed on core needle biopsy specimens obtained at the time of

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Anne Bachelot Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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Magaly Vialon Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Amandine Baptiste AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Isabelle Tejedor Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Caroline Elie AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

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Michel Polak Department of Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
Université Paris Descartes, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

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the CRMERC study group
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height and difference compared to target height, body mass index (BMI), menstrual cycle regularity in women and plasma 17OH-progesterone and renin concentrations in adult CAH patients with or without transition. All patients eligible to enter this study

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Valentina Guarnotta Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Silvia Lucchese Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Mariagrazia Irene Mineo Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Donatella Mangione Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Renato Venezia Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Piero Luigi Almasio Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Gastroenterologia ed Epatologia, Università di Palermo, Palermo, Italy

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Carla Giordano Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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–pyruvic transaminase (GPT), glutamic-oxaloacetic transaminase (GOT) and performed an OGTT (75 g glucose) measuring glycaemia and insulinaemia at 0, 30, 60, 90, and 120 min. The serum progesterone level was determined between days 20 and 24 of the menstrual cycle, and

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Christian Høst Department of Endocrinology and Internal Medicine and the Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus N, Denmark
Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Anders Bojesen Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark

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Mogens Erlandsen Section for Biostatistics, Department of Public Health, Aarhus University, Aarhus C, Denmark

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Kristian A Groth Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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Kurt Kristensen Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Anne Grethe Jurik Department of Radiology, Aarhus University Hospital, Aarhus N, Denmark

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Niels H Birkebæk Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and the Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus N, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark

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). Testosterone, DHEAS, androstenedione and 17-hydroxy-progesterone were measured by liquid-chromatography tandem mass spectrometry. The limit of detection for testosterone was 0.1 nmol/L, and the working ranges were 0.2–100 nmol/L. The working range was assessed

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Jan-Bernd Stukenborg NORDFERTIL Research Lab Stockholm, Pediatric Endocrinology Unit, Department of Women’s and Children’s Health, Karolinska Institutet and University Hospital, Stockholm, Sweden

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Kirsi Jahnukainen NORDFERTIL Research Lab Stockholm, Pediatric Endocrinology Unit, Department of Women’s and Children’s Health, Karolinska Institutet and University Hospital, Stockholm, Sweden
Division of Haematology-Oncology and Stem Cell Transplantation, Children’s Hospital, University of Helsinki, Helsinki University Central Hospital, Helsinki, Finland

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Marsida Hutka MRC Centre for Reproductive Health, The Queen’s Medical Research Institute, The University of Edinburgh, Edinburgh, UK

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Rod T Mitchell MRC Centre for Reproductive Health, The Queen’s Medical Research Institute, The University of Edinburgh, Edinburgh, UK
Edinburgh Royal Hospital for Sick Children, Edinburgh, UK

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conversion of pregnenolone (both groups) and progesterone (adult group) into testosterone ( 102 ) 1–17 13 Prepubertal patients Sertoli-spermatogenic co-cultures Similar patterns of secretory proteins in vitro , when compared to testicular

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Krzysztof C Lewandowski Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Lodz, Poland
Polish Mother’s Memorial Hospital–Research Institute, Lodz, Poland

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Justyna Płusajska Polish Mother’s Memorial Hospital–Research Institute, Lodz, Poland

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Wojciech Horzelski Faculty of Mathematics and Computer Science, University of Lodz, Lodz, Poland

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Ewa Bieniek Polish Mother’s Memorial Hospital–Research Institute, Lodz, Poland

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Andrzej Lewiński Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Lodz, Poland
Polish Mother’s Memorial Hospital–Research Institute, Lodz, Poland

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criteria ( 3 ). All patients were subjected to an identical investigation protocol that included hormonal assessment (TSH, free T 4 and free T 3 , prolactin, total testosterone, androstenedione, DHEAS, 17-hydroxy-progesterone, cortisol after 1 mg overnight

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Simone Martins de Castro Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil

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Paloma Wiest Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil

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Poli Mara Spritzer Division of Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil

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Cristiane Kopacek Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil

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progesterone to 11-deoxycorticosterone and 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol, decreasing mineralocorticoid and glucocorticoid levels and increasing progesterone and 17-OHP levels ( 5 , 6 ). Clinically, CAH is divided into classical and

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