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Yijun Tang
Yijun Tang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yao Chen
Yao Chen
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jiayi Wang
Jiayi Wang
Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Qianwen Zhang
Qianwen Zhang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yirou Wang
Yirou Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Yufei Xu
Yufei Xu
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xin Li
Xin Li
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Jian Wang
Jian Wang
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Xiumin Wang
Xiumin Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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, male-type external genitalia with bilateral cryptorchidism and/or micropenis and/or hypospadias, female-type external genitalia with clitoral enlargement and/or labia fusion and/or inguinal mass and/or inguinal hernia, gonadal dysplasia (GD), absent
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
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Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
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Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
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Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
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Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
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Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
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Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
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Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
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Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
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Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
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Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
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Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
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Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
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Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
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Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
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Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
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Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
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Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
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Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
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Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
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can be very low when all cases with isolated hypospadias or cryptorchidism are investigated by NGS); (ii) variable criteria of withheld variants (the inclusion of rare non-synonymous VUS makes a significant difference in diagnostic yield from 9 to 46
Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil
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Thomas Edouard
Thomas Edouard
Endocrine, Bone Diseases, and Genetics Unit, Children’s Hospital, Toulouse University Hospital, RESTORE INSERM UMR1301, Toulouse, France
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Mohamad Maghnie
Mohamad Maghnie
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
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Alberto Pietropoli
Alberto Pietropoli
Novo Nordisk Health Care AG, Global Medical Affairs Biopharm, Zürich, Switzerland
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Nicky Kelepouris
Nicky Kelepouris
Novo Nordisk Inc., Clinical, Medical and Regulatory Biopharm-RED, Plainsboro, New Jersey, USA
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Alicia Romano
Alicia Romano
Department of Pediatrics, New York Medical College, Valhalla, New York, USA
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Martin Zenker
Martin Zenker
Institute of Human Genetics & Department of Pediatrics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany
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Reiko Horikawa
Reiko Horikawa
Department of Endocrine and Metabolism, National Center for Child Health and Development, Tokyo, Japan
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Introduction Noonan syndrome (NS) is a genetically heterogenous disorder characterized by various clinical features including cardiovascular abnormalities, short stature, distinctive facial features, skeletal anomalies, cryptorchidism in boys
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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remains the strongest discriminator between isolated DP and hypogonadotropic hypogonadism. These include microorchidism, cryptorchidism or micropenis, indicating a lack of prior ‘mini-puberty’ or the presence of other features of GnRH deficiency, which
Christine Poitou
Christine Poitou
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Anthony Holland
Anthony Holland
Department of Psychiatry, University of Cambridge, UK
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Charlotte Höybye
Charlotte Höybye
Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden
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Laura C G de Graaff
Laura C G de Graaff
Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Sandrine Bottius
Sandrine Bottius
Assistance Publique-Hôpitaux de Paris, Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service de Nutrition, Hôpital Pitié-Salpêtrière, Paris, France
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Berit Otterlei
Berit Otterlei
Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway
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Maithé Tauber
Maithé Tauber
Centre de référence Maladies Rares (PRADORT, Syndrome de Prader-Willi et autres formes rares d’obésité avec troubles du comportement alimentaire), Service d’Endocrinologie, Obésités, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, Toulouse, France
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prevented Growth hormone deficiency almost 100% in children and 50% in adults, SGA in 20% Hypogonadism mixed > 60% (adult > 90%) Cryptorchidism more than 90% Premature or agressive adrenarche 30% Hypothyroïdism 20
