Lukas Plachy
Lukas Plachy
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Shenali Anne Amaratunga
Shenali Anne Amaratunga
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic
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conditions such as brain tumors, trauma, infection or irradiation, and congenital forms of CPHD with a presumed genetic background ( 1 ). Pathogenic variants in more than 70 genes expressed during the prenatal development of the head, hypothalamus, and
Marie Reeberg Sass
Marie Reeberg Sass
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Nicolai Jacob Wewer Albrechtsen
Nicolai Jacob Wewer Albrechtsen
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
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Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
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Jens Pedersen
Jens Pedersen
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Endocrinology and Nephrology, Nordsjællands University Hospital, Hillerød, Denmark
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Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Department of Endocrinology and Nephrology, Nordsjællands University Hospital, Hillerød, Denmark
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Kristine Juul Hare
Kristine Juul Hare
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Nis Borbye-Lorenzen
Nis Borbye-Lorenzen
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark
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Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institute, Copenhagen, Denmark
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Katalin Kiss
Katalin Kiss
Department of Pathology, Rigshospitalet, Copenhagen, Denmark
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Tina Vilsbøll
Tina Vilsbøll
Steno Diabetes Center Copenhagen, Gentofte, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Filip Krag Knop
Filip Krag Knop
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Steno Diabetes Center Copenhagen, Gentofte, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Steno Diabetes Center Copenhagen, Gentofte, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Center for Clinical Metabolic Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark
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Steen Seier Poulsen
Steen Seier Poulsen
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Niklas Rye Jørgensen
Niklas Rye Jørgensen
Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Jens Juul Holst
Jens Juul Holst
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Cathrine Ørskov
Cathrine Ørskov
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Bolette Hartmann
Bolette Hartmann
Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Objective:
Parathyroid hormone (PTH) is a key hormone in regulation of calcium homeostasis and its secretion is regulated by calcium. Secretion of PTH is attenuated during intake of nutrients, but the underlying mechanism(s) are unknown. We hypothesized that insulin acts as an acute regulator of PTH secretion.
Methods:
Intact PTH was measured in plasma from patients with T1D and matched healthy individuals during 4-h oral glucose tolerance tests (OGTT) and isoglycemic i.v. glucose infusions on 2 separate days. In addition, expression of insulin receptors on surgical specimens of parathyroid glands was assessed by immunochemistry (IHC) and quantitative PCR (qPCR).
Results:
The inhibition of PTH secretion was more pronounced in healthy individuals compared to patients with T1D during an OGTT (decrementalAUC0–240min: −5256 ± 3954 min × ng/L and −2408 ± 1435 min × ng/L, P = 0.030). Insulin levels correlated significantly and inversely with PTH levels, also after adjusting for levels of several gut hormones and BMI (P = 0.002). Expression of insulin receptors in human parathyroid glands was detected by both IHC and qPCR.
Conclusion:
Our study suggests that insulin may act as an acute regulator of PTH secretion in humans.
Ursula M M Costa
Ursula M M Costa
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Carla R P Oliveira
Carla R P Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Roberto Salvatori
Roberto Salvatori
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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José A S Barreto-Filho
José A S Barreto-Filho
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Viviane C Campos
Viviane C Campos
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Francielle T Oliveira
Francielle T Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Ivina E S Rocha
Ivina E S Rocha
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Joselina L M Oliveira
Joselina L M Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Wersley A Silva
Wersley A Silva
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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Manuel H Aguiar-Oliveira
Manuel H Aguiar-Oliveira
Division of Cardiology, Division of Endocrinology, Division of Endocrinology, Federal University of Sergipe, Aracaju, SE 49060-100, Brazil
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and exercise echocardiography that showed no ischemia). The lack of subclinical atherosclerosis corroborates our previous finding that congenital IGHD is not a cause of CV mortality (17) . The calcium scores of IGHD individuals expressed as percentage
Sandra R Dahl
Sandra R Dahl
Hormone Laboratory, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway
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Ingrid Nermoen
Ingrid Nermoen
Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Division of Medicine, Akershus University Hospital, Lørenskog, Norway
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Division of Medicine, Akershus University Hospital, Lørenskog, Norway
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Ingeborg Brønstad
Ingeborg Brønstad
National Centre for Ultrasound in Gastroenterology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Medicine, University of Bergen, Bergen, Norway
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Department of Clinical Medicine, University of Bergen, Bergen, Norway
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Eystein S Husebye
Eystein S Husebye
Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Kristian Løvås
Kristian Løvås
Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Per M Thorsby
Per M Thorsby
Hormone Laboratory, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway
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Introduction Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders with impaired biosynthesis of adrenal glucocorticosteroids and defects in cortisol biosynthesis. More than 95% of cases are caused by mutations in
Manon Engels
Manon Engels
Department of Paediatrics, Radboud Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands
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Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands
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Paul N Span
Paul N Span
Radiation Oncology, Radiotherapy and OncoImmunology Laboratory, RIMLS, Radboud university medical center, Nijmegen, The Netherlands
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Rod T Mitchell
Rod T Mitchell
MRC Centre for Reproductive Health, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Joop J T M Heuvel
Joop J T M Heuvel
Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands
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Monica A Marijnissen-van Zanten
Monica A Marijnissen-van Zanten
Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands
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Antonius E van Herwaarden
Antonius E van Herwaarden
Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands
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Christina A Hulsbergen-van de Kaa
Christina A Hulsbergen-van de Kaa
Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands
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Egbert Oosterwijk
Egbert Oosterwijk
Department of Urology, Radboud university medical center, Nijmegen, The Netherlands
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Nike M Stikkelbroeck
Nike M Stikkelbroeck
Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands
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Lee B Smith
Lee B Smith
MRC Centre for Reproductive Health, University of Edinburgh, The Queen’s Medical Research Institute, Edinburgh, UK
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Fred C G J Sweep
Fred C G J Sweep
Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands
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Hedi L Claahsen-van der Grinten
Hedi L Claahsen-van der Grinten
Department of Paediatrics, Radboud Amalia Children’s Hospital, Radboud university medical center, Nijmegen, The Netherlands
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Introduction Congenital adrenal hyperplasia (CAH) is a genetic disorder in which adrenocortical steroid synthesis is impaired due to a deficiency in particular steroidogenic enzymes, most often steroid 21-hydroxylase (CYP21A2). A wide range of
Clemens Kamrath
Clemens Kamrath
Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany
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Alexander Eckert
Alexander Eckert
German Center for Diabetes Research (DZD), Munich-Neuherberg, Germany
Institute of Epidemiology and Medical Biometry, ZIBMT, Ulm University, Ulm, Germany
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Institute of Epidemiology and Medical Biometry, ZIBMT, Ulm University, Ulm, Germany
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Birgit Rami-Merhar
Birgit Rami-Merhar
Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria
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Sebastian Kummer
Sebastian Kummer
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine University, Medical Faculty, Duesseldorf, Germany
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Martin Wabitsch
Martin Wabitsch
Center for Rare Endocrine Diseases, Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Centre, Ulm, Germany
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Katharina Laubner
Katharina Laubner
Division of Endocrinology and Diabetology, Department of Medicine II, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany
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Florian Kopp
Florian Kopp
Forth Clinical Department of Medicine, Academic Teaching Hospital Augsburg, Augsburg, Germany
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Silvia Müther
Silvia Müther
Center for Pediatric Diabetology, DRK-Kliniken-Berlin Westend, Berlin, Germany
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Steffen Mühldorfer
Steffen Mühldorfer
Department for Gastroenterology, Endocrinology and Metabolic Diseases, Bayreuth University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Bayreuth, Germany
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Reinhard W Holl
Reinhard W Holl
German Center for Diabetes Research (DZD), Munich-Neuherberg, Germany
Institute of Epidemiology and Medical Biometry, ZIBMT, Ulm University, Ulm, Germany
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Institute of Epidemiology and Medical Biometry, ZIBMT, Ulm University, Ulm, Germany
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in adipose tissue development or function (lipodystrophy (LD)) or primary disorders of insulin signaling ( 1 , 2 , 3 ). LDs are rare heterogeneous disorders characterized by selective loss of body fat and can be divided into congenital and
Kathrin R Frey
Kathrin R Frey
Department of Medicine I, Endocrine and Diabetes Unit, University Hospital, University of Würzburg, Würzburg, Germany
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Tina Kienitz
Tina Kienitz
Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
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Julia Schulz
Julia Schulz
Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
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Manfred Ventz
Manfred Ventz
Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
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Kathrin Zopf
Kathrin Zopf
Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
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Marcus Quinkler
Marcus Quinkler
Endocrinology in Charlottenburg, Berlin, Germany
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Introduction In states of adrenal insufficiency (AI), such as primary adrenal insufficiency (PAI) and congenital adrenal hyperplasia (CAH), glucocorticoids (GCs) are given in low doses as hormone replacement therapy. However, the daily intake
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
Tristan Avril
Tristan Avril
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
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Quentin Hennocq
Quentin Hennocq
Datascience platform, Imagine Institute, Université Paris Cité, Paris, France
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Anne-Sophie Lambert
Anne-Sophie Lambert
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
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Juliane Leger
Juliane Leger
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Dominique Simon
Dominique Simon
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
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Laetitia Martinerie
Laetitia Martinerie
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Claire Bouvattier
Claire Bouvattier
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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Introduction Congenital hypogonadotropic hypogonadism (CHH), a rare genetic condition of unknown prevalence (approximately 1/5000), can be diagnosed shortly after birth in boys who present with micropenis and/or unilateral or bilateral
Henrik Falhammar
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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Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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Hedi Claahsen-van der Grinten
Hedi Claahsen-van der Grinten
Department of Pediatric Endocrine Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Nicole Reisch
Nicole Reisch
Medizinische Klinik and Poliklinik IV, Department of Endocrinology, University Hospital Munich, Munich, Germany
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Jolanta Slowikowska-Hilczer
Jolanta Slowikowska-Hilczer
Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland
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Anna Nordenström
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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Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden
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Robert Roehle
Robert Roehle
Coordinating Center for Clinical Studies, Charité Universitätsmedizin, Berlin, Germany
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Claire Bouvattier
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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Department of Pediatric Endocrinology, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France
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Baudewijntje P C Kreukels
Baudewijntje P C Kreukels
Department of Medical Psychology, VU University Medical Center, Amsterdam, The Netherlands
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Birgit Köhler
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
on behalf of the dsd-LIFE group
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; and XX-DSD characterized by androgen excess such as congenital adrenal hyperplasia (CAH) ( 1 ). Due to the wide range of pathophysiology and presentation, patients with DSD may need a large variety of treatments such as genital surgery, sex hormone
