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Ayse Nurcan Cebeci
Ayse Nurcan Cebeci
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Vera Schempp
Vera Schempp
Paediatric Endocrinology, University Hospital, Bonn, Germany
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Katharina Förtsch
Katharina Förtsch
Paediatric Endocrinology, University Hospital, Düsseldorf, Germany
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Bettina Gohlke
Bettina Gohlke
Paediatric Endocrinology, University Hospital, Bonn, Germany
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Michaela Marx
Michaela Marx
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Helmuth-Guenther Dörr
Helmuth-Guenther Dörr
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Joachim Woelfle
Joachim Woelfle
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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While subclinical or overt hypothyroidism are common in Down syndrome (DS); Graves’ disease (GD) is rare (ranges 0.6–3%). We aimed to evaluate the clinical features, course, and treatment of GD in children with DS and compare them with those without DS. Among 161 children with GD, 13 (8 female, 5 male) had DS (8%). Data were collected retrospectively from patients’ medical records. The mean age at diagnosis was 10.6 ± 4.5 years, with a female-to-male ratio 1.6:1. The main symptoms were weight loss (n = 6), increased irritability (n = 3), and increased sweating (n = 3). None had orbitopathy. Seven of 11 patients with a thyroid ultrasound at diagnosis had a goitre. On admission, all had thyroid-stimulating hormone (TSH) <0.01 mU/L (normal range (NR): 0.51–4.30), free triiodothyronine, free thyroxine (mean ± s.d .), and thyrotrophin receptor antibodies (median, range) were 22.2 ± 10.2 pmol/L (NR: 3.5–8.1), 50.2 ± 18.7 pmol/L (NR 12.6–20.9), and 17.0 (2.89–159.0) U/L (NR <1), respectively. Patients were treated either with methimazole (n = 10) or carbimazole (n = 3), a dose of 0.54 ± 0.36 mg/kg/day. The treatment was ‘block and replace’ in ten patients and ‘dose titration’ in three patients, with a mean duration of 43.4 ± 11.0 months. Of 13 patients, four are still receiving primary treatment, three are in remission, one patient had two medically treated recurrences, three underwent surgery without complications, and two patients were lost to follow-up. Our data show that the clinical course of GD in patients with DS was similar to those without DS and suggest that a prolonged medical therapy should be the preferred option.
S C Clement
S C Clement
Department of Pediatrics, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
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W E Visser
W E Visser
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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C A Lebbink
C A Lebbink
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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D Albano
D Albano
Department of Nuclear Medicine, University of Brescia and Spedali Civili of Brescia, Brescia, Italy
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H L Claahsen-van der Grinten
H L Claahsen-van der Grinten
Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands
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A Czarniecka
A Czarniecka
The Oncologic and Reconstructive Surgery Clinic, M. Sklodowska-Curie National Research Institute of Oncology Gliwice Branch, Gliwice, Poland
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R P Dias
R P Dias
Department of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham Women’s, and Children’s NHS Foundation Trust, Birmingham, UK
Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
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M P Dierselhuis
M P Dierselhuis
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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I Dzivite-Krisane
I Dzivite-Krisane
Department of Pediatric Endocrinology, Children's Clinical University Hospital, Riga, Latvia
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R Elisei
R Elisei
Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
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A Garcia-Burillo
A Garcia-Burillo
Nuclear Medicine Department, Vall d'Hebron University Hospital, Barcelona, Spain
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L Izatt
L Izatt
Department of Clinical Genetics, Guy's and St Thomas’ NHS Foundation Trust, London, UK
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C Kanaka-Gantenbein
C Kanaka-Gantenbein
Division of Endocrinology, Diabetes, and Metabolism, First Department of Pediatrics National and Kapodistrian University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece
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H Krude
H Krude
Institute of Experimental Pediatric Endocrinology, Charité - Universitätsmedizin, Berlin, Germany
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L Lamartina
L Lamartina
Department of Endocrine Oncology, Gustave Roussy, Villejuif, France
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K Lorenz
K Lorenz
Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany
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M Luster
M Luster
Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany
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R Navardauskaitė
R Navardauskaitė
Department of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania
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M Negre Busó
M Negre Busó
Nuclear Medicine Service - Institut de diagnòstic per la Imatge, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain
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K Newbold
K Newbold
Thyroid Therapy Unit, The Royal Marsden NHS Foundation Trust Hospital, London, UK
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R P Peeters
R P Peeters
Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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G Pellegriti
G Pellegriti
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
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A Piccardo
A Piccardo
Department of Nuclear Medicine, EO Ospedali Galliera, Genoa, Italy
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A L Priego
A L Priego
Department of Medicine, Division of Endocrinology, Leiden, University medical Center, Leiden, The Netherlands
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A Redlich
A Redlich
Pediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany
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L de Sanctis
L de Sanctis
Regina Margherita Children Hospital - Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy
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M Sobrinho-Simões
M Sobrinho-Simões
University Hospital of São João, Medical Faculty and Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
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A S P van Trotsenburg
A S P van Trotsenburg
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
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F A Verburg
F A Verburg
Department of Radiology & Nuclear Medicine, Erasmus MC Rotterdam, Rotterdam, The Netherlands
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M Vriens
M Vriens
Department of Endocrine Surgery, University Medical Center Utrecht, Utrecht, The Netherlands
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T P Links
T P Links
Department of Endocrinology, University Medical Center Groningen, Groningen, The Netherlands
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S F Ahmed
S F Ahmed
Endocrinology, Endocrinology Division, Garibaldi-Nesima Medical Center, Catania, Italy
Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK
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H M van Santen
H M van Santen
Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital/ University Medical Center Utrecht, Utrecht, The Netherlands
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
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Union’s Health Programme (2014–2020) on the EuRRECa project ‘777215/EuRRECa’ and the EuRR-Bone project ‘946831/EuRR-Bone’. The EuRRECa project is also grateful to the European Society of Endocrinology and the European Society for Paediatric Endocrinology
