Sarah Zaheer
Sarah Zaheer
Division of Endocrinology, Metabolism, and Nutrition, Duke University Medical Center, Durham, North Carolina, USA
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Kayla Meyer
Kayla Meyer
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Rebecca Easly
Rebecca Easly
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Omar Bayomy
Omar Bayomy
Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Janet Leung
Janet Leung
Section of Endocrinology, Virginia Mason Medical Center, Seattle, Washington, USA
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Andrew W Koefoed
Andrew W Koefoed
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Mahyar Heydarpour
Mahyar Heydarpour
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, Boston, Massachusetts, USA
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Roy Freeman
Roy Freeman
Harvard Medical School, Boston, Massachusetts, USA
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
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Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
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Gail K Adler
Gail K Adler
Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, Boston, Massachusetts, USA
Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, USA
Harvard Medical School, Boston, Massachusetts, USA
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Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, USA
Harvard Medical School, Boston, Massachusetts, USA
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–adrenal activation increase sclerostin. Therefore, the goal of this study was to determine if an infusion of cosyntropin (i.e. adrenocorticotropin hormone(1–24) (ACTH(1–24))), as compared to placebo, increases serum sclerostin levels in healthy men and women within
Bruno Donadille
Bruno Donadille
Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
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Muriel Houang
Muriel Houang
Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
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Irène Netchine
Irène Netchine
Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
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Université Pierre et Marie Curie, Sorbonne Université, Paris, France
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Jean-Pierre Siffroi
Jean-Pierre Siffroi
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France
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INSERM UMR_S933, Paris, France
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Sophie Christin-Maitre
Sophie Christin-Maitre
Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France
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Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France
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Introduction Human 3beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations (ORPHA90791) ( 1 ). Sixty-one unrelated families have been published since
Sneha Arya
Sneha Arya
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Sandeep Kumar
Sandeep Kumar
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Anurag R Lila
Anurag R Lila
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Vijaya Sarathi
Vijaya Sarathi
Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India
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Saba Samad Memon
Saba Samad Memon
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Rohit Barnabas
Rohit Barnabas
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Hemangini Thakkar
Hemangini Thakkar
Department of Radiology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Virendra A Patil
Virendra A Patil
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Nalini S Shah
Nalini S Shah
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Tushar R Bandgar
Tushar R Bandgar
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
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Introduction Wilms’ tumor suppressor gene ( WT1 ), located on chromosome 11p13, encodes a zinc-finger protein. It contains ten exons and spans about 50 kb ( 1 ). Exons 1–6 encode a proline/glutamine-rich transcriptional-regulation region, and
N K Stepto
N K Stepto
Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
Australian Institute for Musculoskeletal Science, Victoria University, Melbourne, Victoria, Australia
Medicine-Western Health, Faculty of Medicine, Dentistry and Health Science, Melbourne University, Melbourne, Victoria, Australia
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Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
Australian Institute for Musculoskeletal Science, Victoria University, Melbourne, Victoria, Australia
Medicine-Western Health, Faculty of Medicine, Dentistry and Health Science, Melbourne University, Melbourne, Victoria, Australia
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D Hiam
D Hiam
Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia
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M Gibson-Helm
M Gibson-Helm
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
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S Cassar
S Cassar
Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia
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C L Harrison
C L Harrison
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
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S K Hutchison
S K Hutchison
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
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A E Joham
A E Joham
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
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B J Canny
B J Canny
School of Medicine, University of Tasmania, Hobart, Tasmania, Australia
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A Moreno-Asso
A Moreno-Asso
Institute for Health and Sport, Victoria University, Melbourne, Victoria, Australia
Australian Institute for Musculoskeletal Science, Victoria University, Melbourne, Victoria, Australia
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Australian Institute for Musculoskeletal Science, Victoria University, Melbourne, Victoria, Australia
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B J Strauss
B J Strauss
Department of Medicine, School of Clinical Sciences, Monash University, Clayton, Victoria, Australia
Division of Diabetes, Endocrinology & Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK
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Division of Diabetes, Endocrinology & Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK
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N Hatzirodos
N Hatzirodos
The Robinson Research Institute, School of Medicine, The University of Adelaide, Adelaide, Australia
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R J Rodgers
R J Rodgers
The Robinson Research Institute, School of Medicine, The University of Adelaide, Adelaide, Australia
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H J Teede
H J Teede
Monash Centre for Health Research and Implementation, Monash University, Clayton, Victoria, Australia
Diabetes and Endocrine Units, Monash Health, Clayton, Victoria, Australia
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Diabetes and Endocrine Units, Monash Health, Clayton, Victoria, Australia
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absorbance at 260 and 280 nm (NanoDrop; Eppendorf). Ten micrograms of each RNA sample were then DNAse treated using DNase 1 (Thermo Fisher Scientific) described in detail in ( 35 ). Relative gene expression was quantified by real-time PCR using the Qiagen
Renata C Scalco
Renata C Scalco
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
Disciplina de Endocrinologia, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, São Paulo, Brazil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Disciplina de Endocrinologia, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, São Paulo, Brazil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Ericka B Trarbach
Ericka B Trarbach
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Edoarda V A Albuquerque
Edoarda V A Albuquerque
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Thais K Homma
Thais K Homma
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Thais H Inoue-Lima
Thais H Inoue-Lima
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Mirian Y Nishi
Mirian Y Nishi
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Berenice B Mendonca
Berenice B Mendonca
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, São Paulo, Brazil
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) and karyotype ( 7 ). Nevertheless, there are controversies among studies and none of these factors can thoroughly explain the interindividual variation. Genome-wide association studies (GWAS) showed that polymorphisms in estrogen receptor 1 gene
Claus H Gravholt
Claus H Gravholt
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
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Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
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Alberto Ferlin
Alberto Ferlin
Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy
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Joerg Gromoll
Joerg Gromoll
Centre of Reproductive Medicine and Andrology, Münster, Germany
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Anders Juul
Anders Juul
Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
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Armin Raznahan
Armin Raznahan
Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA
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Sophie van Rijn
Sophie van Rijn
Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Anne Skakkebæk
Anne Skakkebæk
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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Nicole Tartaglia
Nicole Tartaglia
Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Hanna Swaab
Hanna Swaab
Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands
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Introduction The 3rd international Workshop on Klinefelter Syndrome, Trisomy X, and XYY was held in Leiden, the Netherlands, on September 12–14, 2022. This event followed successful prior workshops in 2010 in Copenhagen, Denmark ( 1 ) and in
Jessica S Jarmasz
Jessica S Jarmasz
Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
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Yan Jin
Yan Jin
Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
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Hana Vakili
Hana Vakili
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
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Peter A Cattini
Peter A Cattini
Department of Physiology & Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
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include a single copy of the intact hGH gene ( hGH-N / GH1) locus ( 10 , 11 ). This 171 kilobase (kb) transgene located on mouse chromosome 14 contains hGH-N and locus control region (LCR) which is marked by the presence of nuclease hypersensitive
Anouar Aznou
Anouar Aznou
Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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Rick Meijer
Rick Meijer
Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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Daniel van Raalte
Daniel van Raalte
Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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Martin den Heijer
Martin den Heijer
Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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Annemieke Heijboer
Annemieke Heijboer
Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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Renate de Jongh
Renate de Jongh
Department of Internal Medicine, Amsterdam University Medical Centers, MB Amsterdam, the Netherlands
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sensitivity, but also hypertrophy of adipocytes and an overall increase in body fat mass ( 15 ). In south Asian men, both increased serum sclerostin levels and decreased expression of insulin signalling genes in white adipose tissue were found ( 28 ). Also
Felix Haglund
Felix Haglund
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Gustaf Rosin
Gustaf Rosin
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Inga-Lena Nilsson
Inga-Lena Nilsson
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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C Christofer Juhlin
C Christofer Juhlin
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Ylva Pernow
Ylva Pernow
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Sophie Norenstedt
Sophie Norenstedt
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Andrii Dinets
Andrii Dinets
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Catharina Larsson
Catharina Larsson
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Johan Hartman
Johan Hartman
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Anders Höög
Anders Höög
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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Department of Oncology–Pathology, Cancer Centre Karolinska, Department of Biosciences and Nutrition, Department of Molecular Medicine and Surgery, Department of Surgery #4, Karolinska Institutet, Stockholm, Sweden
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functions in fertile women, but low levels of oestrogens are also found in men as well as in postmenopausal and prepubertal women. Oestrogens function by binding to oestrogen receptor α (ERA), encoded by the ER gene 1 ( ESR1 ), or to ERB1, encoded by the
Serena Martinelli
Serena Martinelli
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
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Mario Maggi
Mario Maggi
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
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Elena Rapizzi
Elena Rapizzi
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
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others, showing an elevated metastatic potential. Cluster 2 includes PPGLs with mutations in the RE arranged during Transfection ( RET ) proto-oncogene, Neurofibromatosis type 1 ( NF1 ) tumour suppressor gene, TransMEMbrane protein ( TMEM127 ) gene
