Nurcan Cebeci Ayse, Schempp Vera, Förtsch Katharina, Gohlke Bettina, Marx Michaela, Dörr Helmuth-Guenther, Woelfle Joachim
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany.
Paediatric Endocrinology, University Hospital, Bonn, Germany.
Endocr Connect. 2024 May 15;13(6). doi: 10.1530/EC-24-0032. Print 2024 Jun 1.
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.
虽然亚临床或显性甲状腺功能减退在唐氏综合征（DS）中很常见，但格雷夫斯病（GD）却很罕见（发生率为0.6%-3%）。我们旨在评估DS患儿GD的临床特征、病程及治疗情况，并将其与非DS患儿进行比较。在161例GD患儿中，13例（8例女性，5例男性）患有DS（8%）。我们回顾性收集了患者的病历资料。诊断时的平均年龄为10.6±4.5岁，男女比例为1.6:1。主要症状为体重减轻（n = 6）、易激惹增加（n = 3）和多汗（n = 3）。无一例有眼眶病变。11例诊断时接受甲状腺超声检查的患者中有7例有甲状腺肿大。入院时，所有患者促甲状腺激素（TSH）<0.01 mU/L（正常范围（NR）：0.51-4.30），游离三碘甲状腺原氨酸、游离甲状腺素（均值±标准差）和促甲状腺素受体抗体（中位数，范围）分别为22.2±10.2 pmol/L（NR：3.5-8.1）、50.2±18.7 pmol/L（NR 12.6-20.9）和17.0（2.89-159.0）U/L（NR<1）。患者接受甲巯咪唑治疗（n = 10）或卡比马唑治疗（n = 3），剂量为0.54±0.36 mg/kg/天。10例患者采用“阻断并替代”治疗，3例患者采用“剂量滴定”治疗，平均疗程为43.4±11.0个月。13例患者中，4例仍在接受初始治疗，3例缓解，1例患者经药物治疗复发两次，3例接受手术且无并发症，2例患者失访。我们的数据表明，DS患者GD的临床病程与非DS患者相似，并提示长期药物治疗应是首选方案。
