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Mônica R Gadelha Endocrine Unit, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil

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Feng Gu Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Beijing, China

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Marcello D Bronstein Neuroendocrine Unit, Division of Endocrinology and Metabolism, University of São Paulo Medical School, São Paulo, Brazil

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Thierry C Brue Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale, Marseille Medical Genetics, and Assistance Publique Hôpitaux de Marseille, Department of Endocrinology, Hôpital de la Conception, Centre de Référence des Maladies Rares de l’Hypophyse, Marseille, France

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Maria Fleseriu Northwest Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA

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Ilan Shimon Institute of Endocrinology and Metabolism, Rabin Medical Center, and Sackler School of Medicine, Tel-Aviv University, Petah-Tiqva, Israel

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Aart J van der Lely Erasmus University Medical Center, Rotterdam, The Netherlands

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Shoba Ravichandran Novartis Pharmaceuticals Corporation, East Hanover, New Jersey, USA

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Albert Kandra Recordati AG, Basel, Switzerland

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Alberto M Pedroncelli Recordati AG, Basel, Switzerland

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Annamaria A L Colao Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Università Federico II di Napoli, Naples, Italy

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hyperglycemia, younger age (<40 years), normal BMI, and the absence of comorbidities such as diabetes, hypertension, and dyslipidemia at baseline were associated with less likelihood of developing hyperglycemia. These findings do not imply, however, that older

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0361
Volume/Issue:
Volume 9: Issue 12
Open access
Jes Sloth Mathiesen Department of ORL Head & Neck Surgery, Odense University Hospital, Odense, Denmark
Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Jens Peter Kroustrup Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, Aalborg, Denmark

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Peter Vestergaard Department of Clinical Medicine and Endocrinology, Aalborg University Hospital, Aalborg, Denmark

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Kirstine Stochholm Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Center for Rare Diseases, Aarhus University Hospital, Aarhus N, Denmark

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Per Løgstrup Poulsen Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Åse Krogh Rasmussen Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark

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Ulla Feldt-Rasmussen Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark

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Sten Schytte Department of ORL Head & Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

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Stefano Christian Londero Department of ORL Head & Neck Surgery, Aarhus University Hospital, Aarhus, Denmark

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Henrik Baymler Pedersen Department of ORL Head & Neck Surgery, Aalborg University Hospital, Aalborg, Denmark

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Christoffer Holst Hahn Department of ORL Head & Neck Surgery, Copenhagen University Hospital, Copenhagen, Denmark

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Bjarki Ditlev Djurhuus Department of ORL Head & Neck Surgery, Zealand University Hospital, Køge, Denmark

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Jens Bentzen Department of Oncology, Herlev Hospital, Herlev, Denmark

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Sören Möller Department of Clinical Research, University of Southern Denmark, Odense, Denmark
Odense Patient data Explorative Network (OPEN), Odense University Hospital, Odense, Denmark

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Mette Gaustadnes Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Maria Rossing Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark

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Finn Cilius Nielsen Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark

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Kim Brixen Department of Clinical Research, University of Southern Denmark, Odense, Denmark

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Anja Lisbeth Frederiksen Department of Clinical Research, University of Southern Denmark, Odense, Denmark
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

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Christian Godballe Department of ORL Head & Neck Surgery, Odense University Hospital, Odense, Denmark

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the Danish Thyroid Cancer Group (DATHYRCA)
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-3640 25 Mathiesen JS Stochholm K Poulsen PL Vestergaard EM Christiansen P Vestergaard P. Aggressive medullary thyroid carcinoma in a ten-year-old patient with multiple endocrine neoplasia 2B due to the A883F mutation . Thyroid 2015 25

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0157
Volume/Issue:
Volume 7: Issue 6
Open access
Paula Bruna Araujo Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Diagnósticos da América SA, Rio de Janeiro, Rio de Janeiro, Brazil

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Leandro Kasuki Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Endocrinology Unit, Hospital Federal de Bonsucesso, Rio de Janeiro, Rio de Janeiro, Brazil

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Carlos Henrique de Azeredo Lima Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Liana Ogino Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Aline H S Camacho Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
National Cancer Institute, Rio de Janeiro, Rio de Janeiro, Brazil

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Leila Chimelli Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine, Queen Mary University of London, Charterhouse Square, London, UK

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Monica R Gadelha Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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gene. The third pathogenic mutation found is the missense mutation R304Q (c.911G > A) ( Table 2 ), first described by Georgitsi and coworkers ( 33 ) in a seemingly sporadic case of Cushing’s disease. Our study identified this mutation in an 18-year-old

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0237
Volume/Issue:
Volume 6: Issue 8
Open access
Catarina Tavares Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Maria João Coelho Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Institute of Biomedical Sciences of Abel Salazar (ICBAS), Porto, Portugal

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Catarina Eloy Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Miguel Melo Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Department of Endocrinology, Diabetes and Metabolism, University and Hospital Center of Coimbra, Coimbra, Portugal
Medical Faculty, University of Coimbra, Coimbra, Portugal

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Adriana Gaspar da Rocha Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Public Health Unit, ACeS Baixo Mondego, Coimbra, Portugal

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Ana Pestana Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Rui Batista Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Luciana Bueno Ferreira Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Elisabete Rios Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal
Department of Pathology, Medical Faculty of the University of Porto, Porto, Portugal
Department of Pathology, Hospital de S. João, Porto, Portugal

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Samia Selmi-Ruby Inserm UMR-S1052, CNRS UMR5286, Centre de Recherche en Cancérologie de Lyon, Lyon, France

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Bruno Cavadas Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Institute of Biomedical Sciences of Abel Salazar (ICBAS), Porto, Portugal

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Luísa Pereira Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal

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Manuel Sobrinho Simões Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal
Department of Pathology, Medical Faculty of the University of Porto, Porto, Portugal
Department of Pathology, Hospital de S. João, Porto, Portugal

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Paula Soares Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal
Medical Faculty of the University of Porto, Porto, Portugal
Department of Pathology, Medical Faculty of the University of Porto, Porto, Portugal

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in older patients (≥45 years) and also that NIS expression in the primary tumor was not useful as a prognostic marker. So, in our opinion, more retrospective studies in larger series of primary tumors are still necessary, to understand the role of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0302
Volume/Issue:
Volume 7: Issue 1
Open access
Waleed K W Al-Badri Orbital center Amsterdam, Department of Ophthalmology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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Hinke Marijke Jellema Orbital center Amsterdam, Department of Ophthalmology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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Arnaud R G G Potvin Orbital center Amsterdam, Department of Ophthalmology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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Ruth M A van Nispen Amsterdam University Medical Center, Vrije Universiteit, Department of Ophthalmology, Amsterdam Public Health research institute, Amsterdam, the Netherlands

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Peter H Bisschop Department of Endocrinology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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Peerooz Saeed Orbital center Amsterdam, Department of Ophthalmology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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-related QoL ( 21 ). Similarly, Wiersinga et al . noted that older patients reported significantly lower scores on the vision-related GO-QoL subscale ( 12 ). Furthermore, depression,appearance-related social anxiety, and social avoidance (assessed by the

Article Type:
Review Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0259
Volume/Issue:
Volume 13: Issue 9
Open access
Małgorzata Więcek Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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Jakub Gawlik Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Zuzanna Nowak Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland

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Aneta Gawlik Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

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very recently we have seen the first TS pregnancy ( 55 ). Cryopreservation of 29 oocytes was performed in a mosaic (45,X/46,XX) 25-year-old patient. Post-thaw 23 oocytes survived (79.3%) and 13 were fertilized, resulting in three good quality

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0344
Volume/Issue:
Volume 11: Issue 12
Open access
Jorge Gabriel Ruiz-Sánchez Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), Hospital Universitario Fundación Jiménez Díaz, Madrid, España
Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España

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Alfonso Luis Calle-Pascual Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España
Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, España

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Miguel Ángel Rubio-Herrera Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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María Paz De Miguel Novoa Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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Emilia Gómez-Hoyos Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valladolid, Valladolid, España

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Isabelle Runkle Facultad de Medicina, Universidad Complutense de Madrid, Madrid, España
Servicio de Endocrinología y Nutrición. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Hospital Clínico San Carlos, Madrid, España

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. Hyponatraemia in older patients: a clinical and practical approach . Reviews in Clinical Gerontology 2015 25 31 – 52 . ( https://doi.org/10.1017/S0959259814000197 ) 27 Ruiz-Sánchez JG Cuesta M Gómez-Hoyos E Cárdenas-Salas J Rubio-Herrera MÁ

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0430
Volume/Issue:
Volume 13: Issue 3
Open access
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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treatment was administered to 83% ( n  = 20) of adolescent or adult girls. An 11-year-old patient had not yet initiated estrogen therapy at the time of the study, while information was missing for the last three patients. The median (range) age at pubertal

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DOI:
https://doi.org/10.1530/EC-22-0227
Volume/Issue:
Volume 12: Issue 3
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Mohamed Hssaini Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco
Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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Sana Abourazzak Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Ihsane El Otmani Laboratory of Health Sciences and Technologies, Higher Institute of Health Sciences, Hassan First University of Settat, Morocco

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Mohamed Ahakoud Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Amina Ameli Department of Pediatric Endocrinology, University Hospital Center Hassan II, Fez, Morocco

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Laila Bouguenouch Medical Genetics Laboratory, University Hospital Center Hassan II, Fez, Morocco

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Hicham Bekkari Laboratory of Biotechnology, Environment, Food, and Health, Faculty of Sciences Dhar El Mahraz, Sidi Mohammed Ben Abdellah University, Fez, Morocco

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-HSD deficiency, primarily because of the elevated ratios of 17OH-pregnenolone 8.2 (ng/mL) (0.1–2.4) and 3.67 (ng/mL) to 17OHP 2 (ng/mL) and 0.1 (ng/mL), respectively. 21OH deficiency was excluded due to negative genetic testing of the CYP21A2 gene. A 15-year-old

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https://doi.org/10.1530/EC-24-0236
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Volume 13: Issue 10
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Rohit Barnabas Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Swati Jadhav Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India

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Anurag Ranjan Lila Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Sirisha Kusuma Boddu Consultant Pediatric Endocrinology & Diabetes, Rainbow Children’s Hospital, Hyderabad, India

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Saba Samad Memon Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Sneha Arya Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Samiksha Chandrashekhar Hegishte Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Manjiri Karlekar Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Virendra A Patil Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India

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Nalini S Shah Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Tushar Bandgar Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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:g.(487292228_48731226)_(48755671_?)del) *Patient 1: hCG stimulated testosterone 0.11ng/ml, Inhibin B 464 pg/mL Patient 2: A 17-year-8-month-old patient, with no history of consanguinity reared as a girl, presented with primary

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DOI:
https://doi.org/10.1530/EC-24-0246
Volume/Issue:
Volume 13: Issue 11
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