Filter

Refine by collections

  • Paediatric Endocrinology (12)

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 1 - 10 of 12 items for :

  • 5-year risk x
  • Paediatric Endocrinology x
Clear All
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

Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed Close
,
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

Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed Close
,
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

Search for other papers by Margit Bistrup Fischer in
Google Scholar
PubMed Close
,
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

Search for other papers by Emmie N Upners in
Google Scholar
PubMed Close
,
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

Search for other papers by Alexander S Busch in
Google Scholar
PubMed Close
,
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

Search for other papers by Katharina M Main in
Google Scholar
PubMed Close
,
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

Search for other papers by Anna-Maria Andersson in
Google Scholar
PubMed Close
,
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

Search for other papers by Casper P Hagen in
Google Scholar
PubMed Close
, and
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

Search for other papers by Anders Juul in
Google Scholar
PubMed Close

based on their serum concentrations ( 1 , 2 , 3 ). Interestingly, the marker only appears to be sex-dimorphic during a limited time period which covers at least the first year of life ( 1 , 3 ); however, by the age of 5 years, the marker is no longer

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0275
Volume/Issue:
Volume 12: Issue 3
Open access
Régis Coutant Department of Pediatric Endocrinology and Diabetology, Reference Center for Rare Pituiatry Diseases, University Hospital of Angers, Angers, France

Search for other papers by Régis Coutant in
Google Scholar
PubMed Close
,
Maithé Tauber Reference Center for the Prader-Willi syndrome and other rare obesities with feeding disorders (PRADORT), Children Hospital, CHU Toulouse, Toulouse, France
Pediatric team of the Clinical Investigation Center 9302/INSERM, Hospital of Children, Toulouse, France
Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), INSERM UMR1291 - CNRS UMR5051 - Université Toulouse III, Toulouse, France

Search for other papers by Maithé Tauber in
Google Scholar
PubMed Close
,
Béatrice Demaret GRANDIR - French Growth Disorders Association, Asnières-sur-Seine, France

Search for other papers by Béatrice Demaret in
Google Scholar
PubMed Close
,
Robin Henocque Pfizer France, Paris France

Search for other papers by Robin Henocque in
Google Scholar
PubMed Close
,
Yves Brault Pfizer France, Paris France

Search for other papers by Yves Brault in
Google Scholar
PubMed Close
,
François Montestruc eXYSTAT, Malakoff, France

Search for other papers by François Montestruc in
Google Scholar
PubMed Close
,
Olivier Chassany Health Economics Clinical Trial Unit (URC-ECO), Hospital of Hotel-Dieu, AP-HP, Paris, France
Patient-Reported Outcomes Unit (PROQOL), UMR 1123, University Paris Cité, INSERM, Paris, France

Search for other papers by Olivier Chassany in
Google Scholar
PubMed Close
,
Michel Polak Hôpital Universitaire Necker Enfants Malades, Pediatric Endocrinology, Gynecology and Diabetology, Imagine Institute, INSERM U1163, Cochin Institute, INSERM U1016, Centre de référence des pathologies endocriniennes rares de la croissance et du développement, Université de Paris Cité, Paris, France

Search for other papers by Michel Polak in
Google Scholar
PubMed Close
, and
the QOLITHOR Study Group
Search for other papers by the QOLITHOR Study Group in
Google Scholar
PubMed Close
the QOLITHOR Study Group

adulthood is associated with increased risk of cardiovascular morbidity and mortality. Recombinant human GH (rhGH) replacement therapy has been proven to be safe and effective to enable children with short stature to achieve normal height, with early

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0464
Volume/Issue:
Volume 12: Issue 4
Open access
Martijn J J Finken Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Search for other papers by Martijn J J Finken in
Google Scholar
PubMed Close
,
Aleid J G Wirix Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Search for other papers by Aleid J G Wirix in
Google Scholar
PubMed Close
,
Ines A von Rosenstiel-Jadoul Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands

Search for other papers by Ines A von Rosenstiel-Jadoul in
Google Scholar
PubMed Close
,
Bibian van der Voorn Department of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands

Search for other papers by Bibian van der Voorn in
Google Scholar
PubMed Close
,
Mai J M Chinapaw Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Search for other papers by Mai J M Chinapaw in
Google Scholar
PubMed Close
,
Michaela F Hartmann Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

Search for other papers by Michaela F Hartmann in
Google Scholar
PubMed Close
,
Joana E Kist-van Holthe Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Search for other papers by Joana E Kist-van Holthe in
Google Scholar
PubMed Close
,
Stefan A Wudy Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany

Search for other papers by Stefan A Wudy in
Google Scholar
PubMed Close
, and
Joost Rotteveel Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Search for other papers by Joost Rotteveel in
Google Scholar
PubMed Close

-hydroxylase, and 17α-hydroxylase) from children with overweight, with or without hypertension, to those of controls without overweight or hypertension. Materials and methods Population A convenience sample of 5–17-year olds was recruited for the study

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0130
Volume/Issue:
Volume 11: Issue 7
Open access
Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Yijun Tang in
Google Scholar
PubMed Close
,
Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Yao Chen in
Google Scholar
PubMed Close
,
Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Jiayi Wang in
Google Scholar
PubMed Close
,
Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Qianwen Zhang in
Google Scholar
PubMed Close
,
Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Yirou Wang in
Google Scholar
PubMed Close
,
Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Yufei Xu in
Google Scholar
PubMed Close
,
Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Xin Li in
Google Scholar
PubMed Close
,
Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Jian Wang in
Google Scholar
PubMed Close
, and
Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Xiumin Wang in
Google Scholar
PubMed Close

>A, p.Trp752* Hemi M XR P / / 4622 1 year 7 months Hypospadias, penile curvature, cryptorchidism NM_000348.3 SRD5A2 c.269A>C, p.His90Pro Het F AR LP / / SRD5A2 c.680G>A, p.Arg227Gln Het M AR P 0

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Martin Bidlingmaier Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany

Search for other papers by Martin Bidlingmaier in
Google Scholar
PubMed Close
,
Helena Gleeson Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK

Search for other papers by Helena Gleeson in
Google Scholar
PubMed Close
,
Ana-Claudia Latronico Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil

Search for other papers by Ana-Claudia Latronico in
Google Scholar
PubMed Close
, and
Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK

Search for other papers by Martin O Savage in
Google Scholar
PubMed Close

that can be objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or the pharmacological response to a therapeutic intervention ’ ( 5 ). Biomarkers can act as: (i) clinical endpoints, reflecting how the

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0177
Volume/Issue:
Volume 11: Issue 10
Open access
Sommayya Aftab Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

Search for other papers by Sommayya Aftab in
Google Scholar
PubMed Close
,
Diliara Gubaeva Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed Close
,
Jayne A L Houghton The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed Close
,
Antonia Dastamani Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

Search for other papers by Antonia Dastamani in
Google Scholar
PubMed Close
,
Ellada Sotiridou Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed Close
,
Clare Gilbert Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

Search for other papers by Clare Gilbert in
Google Scholar
PubMed Close
,
Sarah E Flanagan Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed Close
,
Anatoly Tiulpakov Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed Close
,
Maria Melikyan Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

Search for other papers by Maria Melikyan in
Google Scholar
PubMed Close
, and
Pratik Shah Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

Search for other papers by Pratik Shah in
Google Scholar
PubMed Close

-ketoglutarate and ammonia. Alpha-ketoglutarate enters the tricarboxylic acid cycle (Krebs cycle), leading to increase in ATP production, which finally results in insulin exocytosis ( 4 ). GDH is allosterically activated by leucine and inhibited by guanosine-5

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0008
Volume/Issue:
Volume 12: Issue 4
Open access
Alexandra Kiess Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany

Search for other papers by Alexandra Kiess in
Google Scholar
PubMed Close
,
Jessica Green Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain

Search for other papers by Jessica Green in
Google Scholar
PubMed Close
,
Anja Willenberg Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Anja Willenberg in
Google Scholar
PubMed Close
,
Uta Ceglarek Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Uta Ceglarek in
Google Scholar
PubMed Close
,
Ingo Dähnert Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany

Search for other papers by Ingo Dähnert in
Google Scholar
PubMed Close
,
Wieland Kiess LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Wieland Kiess in
Google Scholar
PubMed Close
, and
Mandy Vogel LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany

Search for other papers by Mandy Vogel in
Google Scholar
PubMed Close

-BP1/IGF-1-ratio with NT-proBNP were seen in patients with and without HF ( 4 ); in a cohort of pediatric and adult patients with Fontan physiology, higher BNP was associated with lower IGF-1 Z scores ( 5 ) and in 30 pediatric patients with congenital

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0120
Volume/Issue:
Volume 12: Issue 10
Open access
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

Search for other papers by Christine Poitou in
Google Scholar
PubMed Close
,
Anthony Holland Department of Psychiatry, University of Cambridge, UK

Search for other papers by Anthony Holland in
Google Scholar
PubMed Close
,
Charlotte Höybye Department of Endocrinology and Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institute, Stockholm, Sweden

Search for other papers by Charlotte Höybye in
Google Scholar
PubMed Close
,
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

Search for other papers by Laura C G de Graaff in
Google Scholar
PubMed Close
,
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

Search for other papers by Sandrine Bottius in
Google Scholar
PubMed Close
,
Berit Otterlei Landsforeningen for Prader-Willis Syndrom Hiltonåsen, Slependen, Norway

Search for other papers by Berit Otterlei in
Google Scholar
PubMed Close
, and
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

Search for other papers by Maithé Tauber in
Google Scholar
PubMed Close

required for the medical team but also due to management of behavioral problems. This period of profound changes is thus prone to disruptions, the main risks being the worsening of the medical situation, breakdown in support and losing individuals to follow

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0373
Volume/Issue:
Volume 12: Issue 1
Open access
Muriel Houang Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

Search for other papers by Muriel Houang in
Google Scholar
PubMed Close
,
Thao Nguyen-Khoa Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed Close
,
Thibaut Eguether Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

Search for other papers by Thibaut Eguether in
Google Scholar
PubMed Close
,
Bettina Ribault Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

Search for other papers by Bettina Ribault in
Google Scholar
PubMed Close
,
Séverine Brabant Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

Search for other papers by Séverine Brabant in
Google Scholar
PubMed Close
,
Michel Polak Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

Search for other papers by Michel Polak in
Google Scholar
PubMed Close
,
Irène Netchine Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

Search for other papers by Irène Netchine in
Google Scholar
PubMed Close
, and
Antonin Lamazière Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

Search for other papers by Antonin Lamazière in
Google Scholar
PubMed Close

, CAH prevalence is close to 1/14,500 patients and around 750,000 newborns are tested each year. On the one hand, the main pitfall of CAH screening performed by fluoro-immunoassay (FIA) is that it leads to many cases of false-positive results ( 4 , 5

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0101
Volume/Issue:
Volume 11: Issue 6
Open access
Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

Search for other papers by Danielle Christine Maria van der Kaay in
Google Scholar
PubMed Close
,
Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

Search for other papers by Anne Rochtus in
Google Scholar
PubMed Close
,
Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

Search for other papers by Gerhard Binder in
Google Scholar
PubMed Close
,
Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Ingo Kurth in
Google Scholar
PubMed Close
,
Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

Search for other papers by Dirk Prawitt in
Google Scholar
PubMed Close
,
Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

Search for other papers by Irène Netchine in
Google Scholar
PubMed Close
,
Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Gudmundur Johannsson in
Google Scholar
PubMed Close
,
Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

Search for other papers by Anita C S Hokken-Koelega in
Google Scholar
PubMed Close
,
Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Miriam Elbracht in
Google Scholar
PubMed Close
, and
Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Thomas Eggermann in
Google Scholar
PubMed Close

or NPR3 ( 3 , 4 , 5 ). However, the transition between syndromic and non-syndromic growth disturbances is not clearly defined: even in families with the same genetic variant, the phenotype can vary considerably, as is, for example, shown for CDKN

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0277
Volume/Issue:
Volume 11: Issue 11
Open access