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Shiori Minabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Yahaba, Japan

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Kinuyo Iwata Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Youki Watanabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hirotaka Ishii Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hitoshi Ozawa Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Faculty of Health Science, Bukkyo University, Kyoto, Japan

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gonadotropin-releasing hormone (GnRH)/gonadotropin pulse generator regulating gametogenesis and steroidogenesis in male and female mammals ( 24 , 25 , 26 , 27 ). Environmental stresses during development periods such as prenatal androgen excess ( 28

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DOI:
https://doi.org/10.1530/EC-22-0307
Volume/Issue:
Volume 12: Issue 1
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Yan-yu Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Xian Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Shao-yang Bu Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Wei-wei Zhang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Tian-xiu Li Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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De-cai Zheng Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Ze-xiang Huang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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Qian Wang Department of Aquaculture, College of Marine Sciences, Hainan University, Haikou, Hainan, China

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and kiss2 are increased in the female brain but suppressed in the male brain ( 11 ). In zebrafish, kiss1 is mainly expressed in the habenula (vHb) and kiss2 signals are distributed in the dorsal zone (Hd), the posterior tuberal nucleus (nPT), and

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DOI:
https://doi.org/10.1530/EC-22-0136
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Volume 11: Issue 8
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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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deficiency (HSD17B3). These two rare autosomal recessive conditions display a great heterogeneity at both the genotypic and phenotypic levels ( 1 , 2 , 3 , 4 , 5 , 6 ). Clinical presentations of external genitalia at birth range from a female appearance

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DOI:
https://doi.org/10.1530/EC-22-0227
Volume/Issue:
Volume 12: Issue 3
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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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). The Leydig cell also produces insulin-like factor 3, an important component acting in concert with testosterone to promote testicular descent ( 21 ). The female fetus lacks AMH, permitting the Müllerian structures to remain, and lacks the

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DOI:
https://doi.org/10.1530/EC-22-0440
Volume/Issue:
Volume 12: Issue 9
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Rafaella Sales de Freitas Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil

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Thiago F A França Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil

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Sabine Pompeia Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil

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controls ( 16 , 17 ), further suggesting a role of peripheral kisspeptins in initiating puberty in females. However, Zhu et al . ( 15 ) found a marked increase in serum concentrations from the first stages of puberty in boys, but not in girls, in whom

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DOI:
https://doi.org/10.1530/EC-22-0165
Volume/Issue:
Volume 11: Issue 10
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Pamela Stratton Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

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Neelam Giri Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sonia Bhala Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Sklavos Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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Blanche P Alter Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sharon A Savage Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Ligia A Pinto Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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). Physical anomalies are reported in more than half of individuals with FA. Both males and females with FA have high rates of hypogonadism and infertility ( 8 , 9 , 10 , 11 ). DC is the prototype telomere biology disorder (TBD) caused by germline

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DOI:
https://doi.org/10.1530/EC-23-0510
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Volume 13: Issue 9
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Signe Kirkegaard Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Nanna Maria Uldall Torp Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Stig Andersen Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Geriatrics, Aalborg University Hospital, Aalborg, Denmark

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Stine Linding Andersen Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark

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Introduction Thyroid disorders are common endocrine disorders with a female predominance. In the reproductive age span, the disorders are mainly of autoimmune origin with hyperthyroidism being part of Graves’ disease (GD) ( 1 ), and

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https://doi.org/10.1530/EC-23-0431
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Volume 13: Issue 2
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Nathalie Ly Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Sophie Dubreuil Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
Sorbonne University, Paris, France

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and reproductive data of a group of 156 female patients referred to a single tertiary department of Endocrinology and Reproductive Medicine (Pitie-Salpetriere Hospital, Paris, France), presenting with GHD. All patients gave their written informed

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DOI:
https://doi.org/10.1530/EC-22-0241
Volume/Issue:
Volume 11: Issue 12
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Meghnaa Hebbar College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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Halimah Khalil College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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Nawal Zia College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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Jameela Sheikh College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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Eka Melson University of Leicester, Leicester, United Kingdom

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Meri Davitadze Clinic NeoLab, Tbilisi, Georgia

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Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom

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Tejal Lathia Apollo Hospitals, Mumbai, India

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Chitra Selvan Department of Endocrinology, M S Ramaiah Medical College, Bengaluru, India

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Punith Kempegowda Clinic NeoLab, Tbilisi, Georgia
Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom

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PCOS SEva Working Group
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-related bias ( 16 ). Female Sexual Function Index (FSFI) assesses the domains of sexual function: desire, arousal, lubrication, orgasm, satisfaction, and pain and provides a score regarding sexual function. Total score achievable is 36, a lower FSFI score

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DOI:
https://doi.org/10.1530/EC-23-0179
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Volume 12: Issue 11
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Jennifer K Y Ko Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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Jinghua Shi Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, China

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Raymond H W Li Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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William S B Yeung Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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Ernest H Y Ng Department of Obstetrics and Gynecology, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China

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models, vitamin D receptor knockout female mice were unable to reproduce due to defects in uterine development and impaired folliculogenesis ( 6 , 33 ). Conversely, direct injection of 1,25(OH)2D3 into the uterine lumen of female rats increased uterine

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DOI:
https://doi.org/10.1530/EC-21-0444
Volume/Issue:
Volume 11: Issue 2
Open access