Graves’ disease in children with Down syndrome

Cebeci AN, Schempp V, Förtsch K, Gohlke B, Marx M, Dörr HG, Wölfle J (2024)

Publication Type: Journal article

Publication year: 2024

Journal

Endocrine Connections BioScientifica

Book Volume: 13

Article Number: e240032

Journal Issue: 6

DOI: 10.1530/EC-24-0032

Abstract

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.

Authors with CRIS profile

Ayse Nurcan Cebeci Department of Paediatrics and Adolescent Medicine Helmuth-Günther Dörr Medizinische Fakultät Joachim Wölfle Lehrstuhl für Kinder- und Jugendmedizin

Involved external institutions

Universitätsklinikum Bonn DE Germany (DE) Universitätsklinikum Düsseldorf DE Germany (DE)

How to cite

APA:

Cebeci, A.N., Schempp, V., Förtsch, K., Gohlke, B., Marx, M., Dörr, H.-G., & Wölfle, J. (2024). Graves’ disease in children with Down syndrome. Endocrine Connections, 13(6). https://doi.org/10.1530/EC-24-0032

MLA:

Cebeci, Ayse Nurcan, et al. "Graves’ disease in children with Down syndrome." Endocrine Connections 13.6 (2024).

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