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Xinyuan Zhang Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China
School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, Sichuan, China

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Suiyan Li School of Life Science and Engineering, Southwest Jiaotong University, Chengdu, Sichuan, China

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Hongwei Liu Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China

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Huai Bai Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China

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Qingqing Liu Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China

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Chunyi Yang Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China

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Ping Fan Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China

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.001  Waist-to-hip ratio 0.82 ± 0.06 0.84 ± 0.07 <0.001 <0.001  F-G score 0.25 ± 0.74 1.72 ± 2.04 <0.001 <0.001  Acne grade score 0.14 ± 0.34 0.65 ± 0.89 <0.001 <0.001  SBP (mm Hg) 112.59 ± 11.23 114.25 ± 10

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DOI:
https://doi.org/10.1530/EC-23-0463
Volume/Issue:
Volume 13: Issue 3
Open access
Anna C van der Burgh Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Samer R Khan Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands

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Sebastian J C M M Neggers Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands

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Ewout J Hoorn Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands

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Layal Chaker Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands
Department of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands

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low-normal: 88 (33.8) T low: 112 (43.1) CKD stage 5 definition N.R. 76 (29.2) N.A. Grossman M, Clinical Endocrinology , 2015 T intermediate: 5.0–11.9 nmol/L T low: < 5.0 nmol/L T intermediate: 70 (49.0) T low: 16 (11.2) CKD stage 3–4

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DOI:
https://doi.org/10.1530/EC-22-0061
Volume/Issue:
Volume 11: Issue 6
Open access
Amar Osmancevic School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Kristin Ottarsdottir School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Margareta Hellgren School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Ulf Lindblad School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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Bledar Daka School of Public Health and Community Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

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, independent of confounders (OR 2.03, 95% CI 1.34 to 3.06, P  = 0.001 and OR 1.80, 95% CI 1.16–2.78, P  = 0.008). The magnitude of the effect was observed to be lower when adjusting for BMI in all fully adjusted models although the same direction in the

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DOI:
https://doi.org/10.1530/EC-22-0141
Volume/Issue:
Volume 11: Issue 7
Open access
Michael C Velarde Institute of Biology, College of Science, University of the Philippines Diliman, Quezon, Metro Manila, Philippines

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Mikaela Erlinda M Bucu Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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Maria Antonia E Habana Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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-to-severe cases of endometriosis with revised American Fertility Society (rAFS) scores of III–IV at the time of surgery (adjusted odds ratio (aOR): 10.87, 95% CI: 4.34–27.21, P < 0.001, n = 368) and a 4.1 times higher presence of ovarian endometriomas on

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DOI:
https://doi.org/10.1530/EC-23-0169
Volume/Issue:
Volume 12: Issue 11
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Silvia Ciancia Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium

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Vanessa Dubois Basic and Translational Endocrinology (BaTE), Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium

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Martine Cools Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Ghent, Belgium

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idea of direct androgen action on the bone ( 34 , 35 , 36 , 37 ). A cross-sectional study performed in 199 healthy boys aged 6–19 years confirmed that estrogens are positively associated with bone mineralization (estimated by both aBMD and vBMD

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DOI:
https://doi.org/10.1530/EC-22-0280
Volume/Issue:
Volume 11: Issue 11
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Estelle Bonnet Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France

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Mathias Winter Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Delphine Mallet Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

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Ingrid Plotton Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France

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Claire Bouvattier Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Maryse Cartigny Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Laetiti Martinerie Centre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, France

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Michel Polak Centre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, France

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Anne Bachelot Centre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, France

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Frédéric Huet Centre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, France

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Sabine Baron Centre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, France

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Muriel Houang Centre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France

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Sylvie Soskin Hôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, France

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Anne Lienhardt Centre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, France

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Jérôme Bertherat Groupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, France

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Cyril Amouroux Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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Aurore Bouty Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Lise Duranteau AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

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Rémi Besson Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Alaa El Ghoneimi Centre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, France

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Dinane Samara-Boustani Centre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, France

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François Becmeur Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, France

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Nicolas Kalfa Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, France

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Françoise Paris Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

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François Medjkane Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

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Aude Brac de la Perrière Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France

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Patricia Bretones Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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Hervé Lejeune Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France
Université Claude Bernard, Lyon, France

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Marc Nicolino Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France

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Pierre Mouriquand Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France

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Daniela-Brindusa Gorduza Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

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Claire-Lise Gay Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

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the wake of the 2006 Chicago Consensus and other recent professional guidelines ( 1 , 33 , 34 , 35 , 36 ). In particular, a clear trend has been observed in favor of rearing newborns and infants diagnosed with SRD5A2 or HSD17B3 deficiencies as boys

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DOI:
https://doi.org/10.1530/EC-22-0227
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Volume 12: Issue 3
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Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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, CHD7, SEMA3A, NSMF, HS6ST1, FSHB, LHB, SOX3, FGF17, IL17RD, DUSP6, SPRY4, FLRT3, FEZF1, IGSF10, and TSHZ1 . The genes investigated in the CPHD were PROP1, NR0B1, PCSK1, LHX4, HESX1, OTX2, RNF216, OTUD4, SOX2, POU1F1, SOX10, PNPLA6, STUB1, POLR3A

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https://doi.org/10.1530/EC-22-0252
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Volume 12: Issue 4
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Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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and 95% of the expression levels seen from Xa ( 6 , 7 ). The genes in the pseudoautosomal region 1 (PAR1) ( AKAP17A , ASMT , ASMTL , CD99 , CD99P1 , CRLF2 , CSF2RA , DHRSX , GTPBP6 , IL3RA , P2RY8,PLCXD1 , PPP2R3B , SHOX , SLC25A6 , XG

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https://doi.org/10.1530/EC-23-0011
Volume/Issue:
Volume 12: Issue 9
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Yasmin Shibli Abu Raya Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Asaf Bilgory Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Nardin Aslih Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Yuval Atzmon Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Maya Shavit Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Daniela Estrada Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Moamina Sharqawi Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel

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Einat Shalom-Paz Department of Obstetrics & Gynecology, Gynecological Research Laboratory, Hillel Yaffe Medical Center, Hadera, Israel
Ruth and Bruce Rappaport School of Medicine, The Technion Institute of Technology, Haifa, Israel

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fresh transfers. Similarly, only one blastocyst was transferred in frozen blastocyst cycles. Luteal phase support included either oral dydrogesterone 10 mg TID (Duphastone Abbott, Chicago, IL, USA), vaginal micronized progesterone (MVP) 100 mg TID

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DOI:
https://doi.org/10.1530/EC-23-0189
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Volume 12: Issue 11
Open access
Christos Tsatsanis Department of Clinical Chemistry, School of Medicine, University of Crete, Heraklion, Crete, Greece
Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Institute of Molecular Biology and Biotechnology, FORTH, Heraklion, Greece

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Angel Elenkov Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Irene Leijonhufvud Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Katerina Vaporidi Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden

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Åsa Tivesten Wallenberg Laboratory for Cardiovascular and Metabolic Research, Institute of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

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Aleksander Giwercman Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Wojdasiewicz P Wajda A Haladyj E Romanowska-Prochnicka K Felis-Giemza A Nalecz-Janik J Walczyk M Olesinska M Tarnacka B Paradowska-Gorycka A . IL-35, TNF-alpha, BAFF, and VEGF serum levels in patients with different rheumatic diseases

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0456
Volume/Issue:
Volume 12: Issue 3
Open access