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Jennifer K Y Ko Department of Women’s Health, University College London Hospital, London, UK

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Thomas F J King Department of Women’s Health, University College London Hospital, London, UK

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Louise Williams Department of Women’s Health, University College London Hospital, London, UK

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Sarah M Creighton Department of Women’s Health, University College London Hospital, London, UK

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Gerard S Conway Department of Women’s Health, University College London Hospital, London, UK

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Introduction Complete androgen insensitivity syndrome (CAIS) is one of the most common disorders of sex development (DSD) caused by mutations of the androgen receptor gene. The estimated prevalence of AIS is 4.1 per 100,000 live born females

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0083
Volume/Issue:
Volume 6: Issue 6
Open access
Zofia Kolesinska Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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James Acierno Jr Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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S Faisal Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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Cheng Xu Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Karina Kapczuk Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland

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Anna Skorczyk-Werner Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Hanna Mikos Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Aleksandra Rojek Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Andreas Massouras Saphetor, SA, Lausanne, Switzerland

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Maciej R Krawczynski Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland

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Nelly Pitteloud Endocrinology, Diabetology & Metabolism Service, Lausanne University Hospital, Lausanne, Switzerland

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Marek Niedziela Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland

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Opitz GBBB syndrome XL Xp22.2 300552  RXFP2 Cryptorchidism AD 13q13.1 606655 AR, autosomal recessive; CAIS, complete androgen insensitivity syndrome; CGD, complete gonadal dysgenesis; PAIS, partial androgen insensitivity

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0472
Volume/Issue:
Volume 7: Issue 12
Open access
Marie Lindhardt Ljubicic Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Margit Bistrup Fischer Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Emmie N Upners Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Alexander S Busch Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Anna-Maria Andersson Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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 = 8), complete androgen insensitivity syndrome (CAIS, n  = 3), persistent Müllerian duct syndrome ( n  = 3), 46,XX DSD ( n  = 2), nuclear receptor subfamily 5 group A member 1 mutation ( n  = 1), a 46,Xvar(Y)/46,XY-karyotype ( n  = 1), and a 48,XXYY

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0275
Volume/Issue:
Volume 12: Issue 3
Open access
R Walia Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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M Singla Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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K Vaiphei Department of Histopathology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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S Kumar Department of Urology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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A Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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clitoromegaly, posterior labial fusion, inguinal/labial mass, family history of DSD (e.g. complete androgen insensitivity syndrome) and genital/karyotype discordance ( 1 ). Current classification of DSD includes patients with Turner’s syndrome and Klinefelter

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0022
Volume/Issue:
Volume 7: Issue 2
Open access
Luigi Laino Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Silvia Majore Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Nicoletta Preziosi Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Barbara Grammatico Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Carmelilia De Bernardo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Salvatore Scommegna Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Anna Maria Rapone Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Giacinto Marrocco Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Irene Bottillo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Paola Grammatico
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generation of a termination codon and truncated form of the androgen receptor, causes complete androgen insensitivity syndrome . Journal of Applied Genetics 2002 43 109 – 114 . 38 Brown TR Scherer PA Chang YT Migeon CJ Ghirri P Murono K

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0085
Volume/Issue:
Volume 3: Issue 4
Open access
A Bergougnoux Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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L Gaspari Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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M Soleirol Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France

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N Servant Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France

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S Soskin Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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S Rossignol Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France

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K Wagner-Mahler Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France

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J Bertherat Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France

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C Sultan Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France

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N Kalfa Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France

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F Paris Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France

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by the pediatric endocrinology service unit of the DevGen team of Montpellier for complete androgen insensitivity syndrome (CAIS) diagnosed at the age of 10 years in the context of bilateral inguinal hernia associated with palpable inguinal gonads. At

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0267
Volume/Issue:
Volume 12: Issue 12
Open access
Henrik Falhammar Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

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Hedi Claahsen-van der Grinten Department of Pediatric Endocrine Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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Nicole Reisch Medizinische Klinik and Poliklinik IV, Department of Endocrinology, University Hospital Munich, Munich, Germany

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Jolanta Slowikowska-Hilczer Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

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Anna Nordenström Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden

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Robert Roehle Coordinating Center for Clinical Studies, Charité Universitätsmedizin, Berlin, Germany

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Claire Bouvattier Paris-Sud University, Orsay, France
Department of Pediatric Endocrinology, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France

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Baudewijntje P C Kreukels Department of Medical Psychology, VU University Medical Center, Amsterdam, The Netherlands

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Birgit Köhler Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany

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on behalf of the dsd-LIFE group
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the predicted phenotype from genotype data. 21OHD, 21-hydroxylase deficiency; CAH, congenital adrenal hyperplasia; CAIS, complete androgen insensitivity syndrome; HSD, hydroxysteroid dehydrogenase; PAIS, partial androgen insensitivity

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0031
Volume/Issue:
Volume 7: Issue 3
Open access
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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. Similar findings, although slightly less pronounced, were observed in healthy boys ( 31 ). Women with complete androgen insensitivity syndrome have been studied to better understand androgen actions on bone. These studies show that aBMD and vBMD are

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0280
Volume/Issue:
Volume 11: Issue 11
Open access
Letícia Ribeiro Oliveira Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil

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Carlos Alberto Longui Pediatric Endocrinology Unit, School of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil

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Guilherme Guaragna-Filho Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil

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José Luiz Costa School of Pharmaceutical Sciences, UNICAMP, Campinas, Sao Paulo, Brazil
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Rafael Lanaro Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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David Antônio Silva Laboratory of Physiology, Division of Clinical Pathology, Clinical Hospital, UNICAMP, Campinas, Sao Paulo, Brazil

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Maria Izabel Chiamolera Fleury Group, Sao Paulo, Brazil

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Maricilda Palandi de Mello Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil

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André Moreno Morcillo Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Andrea Trevas Maciel-Guerra Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Gil Guerra-Junior Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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androgen insensitivity syndrome (CAIS) (OMIM #300068) or partial androgen insensitivity syndrome (PAIS) (OMIM #312300) caused by mutations in the AR (OMIM *313700) gene, and 5α-reductase type 2 deficiency (5AR2D) (OMIM #264600) caused by mutations in SRD

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Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0454
Volume/Issue:
Volume 9: Issue 11
Open access
Kirsten Davidse Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anneloes van Staa Research Centre Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, the Netherlands

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Wanda Geilvoet Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Judith P van Eck Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Karlijn Pellikaan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Janneke Baan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Erica L T van den Akker Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Theo Sas Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine E Hannema Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands

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Aart Jan van der Lely Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Laura C G de Graaff Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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pituitary anomaly 15 Polyglandular syndrome 1 17a-OH hydroxylase deficiency 1 Congenital hypothyroidism 6 Complete androgen insensitivity syndrome (CAIS) 4 (Pan) hypopituitarism 4 Fanconi anaemia 2 Hyperandrogenism 1

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0025
Volume/Issue:
Volume 11: Issue 5
Open access