Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 1 - 10 of 154 items for :

  • Down syndrome x
Clear All
Ayse Nurcan Cebeci Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

Search for other papers by Ayse Nurcan Cebeci in
Google Scholar
PubMed Close
,
Vera Schempp Paediatric Endocrinology, University Hospital, Bonn, Germany

Search for other papers by Vera Schempp in
Google Scholar
PubMed Close
,
Katharina Förtsch Paediatric Endocrinology, University Hospital, Düsseldorf, Germany

Search for other papers by Katharina Förtsch in
Google Scholar
PubMed Close
,
Bettina Gohlke Paediatric Endocrinology, University Hospital, Bonn, Germany

Search for other papers by Bettina Gohlke in
Google Scholar
PubMed Close
,
Michaela Marx Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

Search for other papers by Michaela Marx in
Google Scholar
PubMed Close
,
Helmuth-Guenther Dörr Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

Search for other papers by Helmuth-Guenther Dörr in
Google Scholar
PubMed Close
, and
Joachim Woelfle Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany

Search for other papers by Joachim Woelfle in
Google Scholar
PubMed Close

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
Mette H Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Mette H Viuff in
Google Scholar
PubMed Close
and
Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Claus H Gravholt in
Google Scholar
PubMed Close

. ( 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

Search for other papers by Lukas Ochsner Ridder in
Google Scholar
PubMed Close
,
Agnethe Berglund Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Agnethe Berglund in
Google Scholar
PubMed Close
,
Kirstine Stochholm Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Kirstine Stochholm in
Google Scholar
PubMed Close
,
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

Search for other papers by Simon Chang in
Google Scholar
PubMed Close
, and
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

Search for other papers by Claus H Gravholt in
Google Scholar
PubMed Close

. 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
Hiren Patt Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Hiren Patt in
Google Scholar
PubMed Close
,
Katrin Koehler Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Search for other papers by Katrin Koehler in
Google Scholar
PubMed Close
,
Sailesh Lodha Eternal Hospital, Jaipur, Rajasthan, India

Search for other papers by Sailesh Lodha in
Google Scholar
PubMed Close
,
Swati Jadhav Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Swati Jadhav in
Google Scholar
PubMed Close
,
Chaitanya Yerawar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Chaitanya Yerawar in
Google Scholar
PubMed Close
,
Angela Huebner Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Search for other papers by Angela Huebner in
Google Scholar
PubMed Close
,
Kunal Thakkar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Kunal Thakkar in
Google Scholar
PubMed Close
,
Sneha Arya Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Sneha Arya in
Google Scholar
PubMed Close
,
Sandhya Nair Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Sandhya Nair in
Google Scholar
PubMed Close
,
Manjunath Goroshi Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Manjunath Goroshi in
Google Scholar
PubMed Close
,
Hosahithlu Ganesh Department of Endocrinology, AJ Institute of Medical sciences, Mangalore, India

Search for other papers by Hosahithlu Ganesh in
Google Scholar
PubMed Close
,
Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru, India

Search for other papers by Vijaya Sarathi in
Google Scholar
PubMed Close
,
Anurag Lila Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Anurag Lila in
Google Scholar
PubMed Close
,
Tushar Bandgar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Tushar Bandgar in
Google Scholar
PubMed Close
, and
Nalini Shah Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

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

in TAS include microcephaly, short stature, dysmorphic facies with long narrow face, long philtrum, down-turned mouth, thin upper lip, lack of eyelashes, poor wound healing, palmar and plantar hyperkeratosis, scoliosis, osteoporosis, long QT syndrome

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0255
Volume/Issue:
Volume 6: Issue 8
Open access
Katica Bajuk Studen Nuclear Medicine Department, University Medical Centre Ljubljana, Ljubljana, Slovenia

Search for other papers by Katica Bajuk Studen in
Google Scholar
PubMed Close
and
Marija Pfeifer Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

Search for other papers by Marija Pfeifer in
Google Scholar
PubMed Close

Introduction Polycystic ovary syndrome (PCOS) is a common disorder in women of reproductive age, with a prevalence 5–16% under different diagnostic criteria and across several ethnic groups, with exact pathogenesis still unclear ( 1 , 2 , 3

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0129
Volume/Issue:
Volume 7: Issue 7
Open access
M Guftar Shaikh Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

Search for other papers by M Guftar Shaikh in
Google Scholar
PubMed Close
,
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

Search for other papers by Timothy G Barrett in
Google Scholar
PubMed Close
,
Nicola Bridges Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK

Search for other papers by Nicola Bridges in
Google Scholar
PubMed Close
,
Robin Chung Research Working Group, Prader-Willi Syndrome Association, Northampton, UK

Search for other papers by Robin Chung in
Google Scholar
PubMed Close
,
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

Search for other papers by Evelien F Gevers in
Google Scholar
PubMed Close
,
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

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

Search for other papers by Anthony Holland in
Google Scholar
PubMed Close
,
Shankar Kanumakala Royal Alexandra Children’s Hospital, Brighton, UK

Search for other papers by Shankar Kanumakala in
Google Scholar
PubMed Close
,
Ruth Krone Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK

Search for other papers by Ruth Krone in
Google Scholar
PubMed Close
,
Andreas Kyriakou Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus

Search for other papers by Andreas Kyriakou in
Google Scholar
PubMed Close
,
E Anne Livesey Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK

Search for other papers by E Anne Livesey in
Google Scholar
PubMed Close
,
Angela K Lucas-Herald Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

Search for other papers by Angela K Lucas-Herald in
Google Scholar
PubMed Close
,
Christina Meade CHI at Tallaght University Hospital, Dublin, Republic of Ireland

Search for other papers by Christina Meade in
Google Scholar
PubMed Close
,
Susan Passmore Prader-Willi Syndrome Association, Northampton, UK

Search for other papers by Susan Passmore in
Google Scholar
PubMed Close
,
Edna Roche CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland

Search for other papers by Edna Roche in
Google Scholar
PubMed Close
,
Chris Smith Royal Alexandra Children’s Hospital, Brighton, UK

Search for other papers by Chris Smith in
Google Scholar
PubMed Close
, and
Sarita Soni Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK

Search for other papers by Sarita Soni in
Google Scholar
PubMed Close

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
Caroline Culen University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Caroline Culen in
Google Scholar
PubMed Close
,
Diana-Alexandra Ertl University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Diana-Alexandra Ertl in
Google Scholar
PubMed Close
,
Katharina Schubert University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Katharina Schubert in
Google Scholar
PubMed Close
,
Lisa Bartha-Doering University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Lisa Bartha-Doering in
Google Scholar
PubMed Close
, and
Gabriele Haeusler University Clinic of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

Search for other papers by Gabriele Haeusler in
Google Scholar
PubMed Close

Introduction Turner syndrome (TS) is caused by structural anomalies in or complete loss of the X-chromosome (45X). Although a rare disease with an incidence of 1 in 2500 female births, it is nevertheless the most common sex chromosome

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0036
Volume/Issue:
Volume 6: Issue 4
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

Search for other papers by H Vlaardingerbroek in
Google Scholar
PubMed Close
,
E L T van den Akker Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands

Search for other papers by E L T van den Akker in
Google Scholar
PubMed Close
, and
A C S Hokken-Koelega Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, The Netherlands

Search for other papers by A C S Hokken-Koelega in
Google Scholar
PubMed Close

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
Liza Haqq School of Science and Technology, University of New England, Armidale, New South Wales 2351, Australia

Search for other papers by Liza Haqq in
Google Scholar
PubMed Close
,
James McFarlane School of Science and Technology, University of New England, Armidale, New South Wales 2351, Australia

Search for other papers by James McFarlane in
Google Scholar
PubMed Close
,
Gudrun Dieberg School of Science and Technology, University of New England, Armidale, New South Wales 2351, Australia

Search for other papers by Gudrun Dieberg in
Google Scholar
PubMed Close
, and
Neil Smart School of Science and Technology, University of New England, Armidale, New South Wales 2351, Australia

Search for other papers by Neil Smart in
Google Scholar
PubMed Close

Introduction Polycystic ovarian syndrome (PCOS) is a heterogeneous endocrine disorder, affecting 18–22% of reproductive-age women (1) . PCOS was first reported in 1935 by Stein & Leventhal (2) and is characterised by clinical or biochemical

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0010
Volume/Issue:
Volume 3: Issue 1
Open access
M A Webb NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
The Leicester Diabetes Centre, University Hospitals of Leicester NHS Trust, Leicester General Hospital, Leicester, UK

Search for other papers by M A Webb in
Google Scholar
PubMed Close
,
H Mani Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK
Department of Diabetes and Endocrinology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, UK
Diabetes and Endocrinology Department, Kettering General Hospital NHS Foundation Trust, Kettering, UK

Search for other papers by H Mani in
Google Scholar
PubMed Close
,
S J Robertson The Leicester Diabetes Centre, University Hospitals of Leicester NHS Trust, Leicester General Hospital, Leicester, UK

Search for other papers by S J Robertson in
Google Scholar
PubMed Close
,
H L Waller Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by H L Waller in
Google Scholar
PubMed Close
,
D R Webb NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by D R Webb in
Google Scholar
PubMed Close
,
C L Edwardson NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by C L Edwardson in
Google Scholar
PubMed Close
,
D H Bodicoat NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by D H Bodicoat in
Google Scholar
PubMed Close
,
T Yates NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by T Yates in
Google Scholar
PubMed Close
,
K Khunti NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
The Leicester Diabetes Centre, University Hospitals of Leicester NHS Trust, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by K Khunti in
Google Scholar
PubMed Close
, and
M J Davies NIHR Leicester-Loughborough Diet, Lifestyle and Physical Activity Biomedical Research Unit, University Hospitals of Leicester, Leicester General Hospital, Leicester, UK
The Leicester Diabetes Centre, University Hospitals of Leicester NHS Trust, Leicester General Hospital, Leicester, UK
Diabetes Research Centre, University of Leicester, Leicester General Hospital, Leicester, UK

Search for other papers by M J Davies in
Google Scholar
PubMed Close

Introduction Polycystic ovary syndrome (PCOS) is the most common endocrine condition in women of reproductive age with a reported prevalence of up to 18% ( 1 ). Symptoms of PCOS include excess hair, irregular/absent periods and infertility

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0438
Volume/Issue:
Volume 7: Issue 12
Open access