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Ayse Nurcan Cebeci Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Vera Schempp Paediatric Endocrinology, University Hospital, Bonn, Germany

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Katharina Förtsch Paediatric Endocrinology, University Hospital, Düsseldorf, Germany

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Bettina Gohlke Paediatric Endocrinology, University Hospital, Bonn, Germany

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Michaela Marx Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Helmuth-Guenther Dörr Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Joachim Woelfle Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

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Introduction Graves’ disease (GD) is the primary aetiology of hyperthyroidism in children and adolescents, with a prevalence of about 1 in 10,000 ( 1 ). Down syndrome (DS) is one of the most common chromosomal disorders, occurring in nearly 1

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0032
Volume/Issue:
Volume 13: Issue 6
Open access
Nella Augusta Greggio Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Elisa Rossi CINECA – Interuniversity Consortium (Health Service), Bologna, Italy

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Silvia Calabria CORE srl – Collaborative Outcome Research, Bologna, Italy

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Alice Meneghin Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Joaquin Gutierrez de Rubalcava Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Carlo Piccinni CORE srl – Collaborative Outcome Research, Bologna, Italy

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Antonella Pedrini CORE srl – Collaborative Outcome Research, Bologna, Italy

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comorbidities were disability (12.4%), rare disease (10.6%), cardiovascular disease (8.5%), prematurity/immaturity (7.6%) and severe congenital physical/sensory/neurological deficits (4.7%). Moreover, 2.3% of our cohort had diabetes, 2.3% Down syndrome, 1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0066
Volume/Issue:
Volume 6: Issue 6
Open access
Adriano N Cury Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Verônica T Meira Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Osmar Monte Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil
Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Marília Marone Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Nilza M Scalissi Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Cristiane Kochi Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Luís E P Calliari Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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Carlos A Longui Pediatric Endocrinology Unit, Endocrinology and Metabolism, Nuclear Medicine Laboratory, Pediatrics Department, Irmandade da Santa Casa de Misericórdia de São Paulo, 01221-020 São Paulo, Brazil

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12.6 (4.8) years in males. At the time of admission to the pediatric endocrinology unit, the mean ( s.d .) age was 13 (3.4) years in females and 14 (3.9) years in males ( Fig. 1 ). Associated diseases were detected in five patients: Down syndrome

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0049
Volume/Issue:
Volume 2: Issue 1
Open access
Mette H Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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. ( https://doi.org/10.1186/s13023-018-0976-2 ) 10 Viuff MH Stochholm K Uldbjerg N Nielsen BB Gravholt CH . Only a minority of sex chromosome abnormalities are detected by the Danish national prenatal screening program for Down syndrome . Human

Article Type:
Article Commentary
DOI:
https://doi.org/10.1530/EC-19-0480
Volume/Issue:
Volume 8: Issue 12
Open access
Lukas Ochsner Ridder Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

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Agnethe Berglund Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Kirstine Stochholm Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark

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Simon Chang Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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Claus H Gravholt Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark

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. Regardless, the need for evidence-based treatment programs in KS is evident no matter the age of the individual. In the same context, it is noteworthy, that compared to Down syndrome, available information on the internet describes KS as a genetic and

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0024
Volume/Issue:
Volume 12: Issue 5
Open access
Nikolina Zdraveska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Maja Zdravkovska Institute of Patophysiology and Nuclear Medicine, Faculty of Medicine, Skopje, Republic of Macedonia

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Violeta Anastasovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Elena Sukarova-Angelovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Mirjana Kocova University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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-seven children were excluded from the present study because of age less than 3 years and 14 children because of incomplete medical records, lost from follow-up, parents’ refusal or Down syndrome. Therapy was interrupted in 55 CH children for mean period of 30

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0332
Volume/Issue:
Volume 7: Issue 2
Open access
Annalisa Blasetti Department of Paediatrics, University of Chieti, Chieti, Italy

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Valeria Castorani Department of Paediatrics, University of Chieti, Chieti, Italy

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Nella Polidori Department of Paediatrics, University of Chieti, Chieti, Italy

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Ilaria Mascioli Department of Paediatrics, University of Chieti, Chieti, Italy

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Francesco Chiarelli Department of Paediatrics, University of Chieti, Chieti, Italy

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Cosimo Giannini Department of Paediatrics, University of Chieti, Chieti, Italy

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syndromes (i.e. Prader-Willi syndrome, Down syndrome) were excluded. All children have had a diagnosis of T1D according to American Diabetes Association (ADA) criteria ( 16 ). All selected patients were treated with intensive insulin therapy consisting of

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0370
Volume/Issue:
Volume 12: Issue 4
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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with salt wasting CAH had Down syndrome. Genetic analysis was performed in thirty patients ( 16 ). Eight patients had ovotesticular DSD. Five of them were reared as males. They presented with varying degree of genital ambiguity and breast development

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0022
Volume/Issue:
Volume 7: Issue 2
Open access
H Vlaardingerbroek Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands
Willem-Alexander Children’s Hospital, Department of Pediatrics, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands

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E L T van den Akker Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands

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A C S Hokken-Koelega Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands

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obesity: the Prader-Willi and the down syndromes . Metabolism: Clinical and Experimental 2007 56 1076 – 1080 . ( https://doi.org/10.1016/j.metabol.2007.03.016 ) 62 Bakker NE Siemensma EP Koopman C Hokken-Koelega AC Dietary energy intake

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-21-0111
Volume/Issue:
Volume 10: Issue 5
Open access
M Guftar Shaikh Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Timothy G Barrett Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK

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Nicola Bridges Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK

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Robin Chung Research Working Group, Prader-Willi Syndrome Association, Northampton, UK

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Evelien F Gevers Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK

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Anthony P Goldstone PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK

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Anthony Holland Department of Psychiatry, University of Cambridge, Cambridge, UK

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Shankar Kanumakala Royal Alexandra Children’s Hospital, Brighton, UK

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Ruth Krone Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK

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Andreas Kyriakou Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus

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E Anne Livesey Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK

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Angela K Lucas-Herald Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Christina Meade CHI at Tallaght University Hospital, Dublin, Republic of Ireland

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Susan Passmore Prader-Willi Syndrome Association, Northampton, UK

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Edna Roche CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland

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Chris Smith Royal Alexandra Children’s Hospital, Brighton, UK

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Sarita Soni Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK

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Journal of Medical Genetics. Part A 2007 143A 449 – 459 . ( https://doi.org/10.1002/ajmg.a.31507 ) 202 Cimolin V Galli M Grugni G Vismara L Albertini G Rigoldi C & Capodaglio P . Gait patterns in Prader-Willi and Down syndrome patients

Article Type:
Other
Collections:
Obesity
DOI:
https://doi.org/10.1530/EC-24-0091
Volume/Issue:
Volume 13: Issue 8
Open access