Department of Pediatrics, Saint Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Endocrinol Diabetes Metab. 2022 May;5(3):e00337. doi: 10.1002/edm2.337. Epub 2022 Apr 14.
Subclinical hypothyroidism (SCH) is the commonest thyroid abnormality in patients with Down syndrome (DS). The purpose of this study was to determine the prevalence and types of thyroid abnormalities, to assess the age at diagnosis, and to examine the screening practice in children with DS in a resource limited setting.
A retrospective study was conducted in children with DS seen at endocrine follow-up clinic. Data were collected from patients' registration book and medical records.
A total of 115 patients with DS were included in the study out of which 64 (59.8%) were males. Their median age at diagnosis was 9 months (range 4-15 years). Thyroid function test (TFT) was done at least once for 107 (93%) patients. Abnormal thyroid function was observed in 51 (47.7%) patients. The commonest thyroid abnormality was SCH (30/107, 28%) followed by congenital hypothyroidism (11/107, 10.3%), overt hypothyroidism (9/107, 8.4%) and hyperthyroidism (1/107, 0.9%). Most of the patients (86/107, 80.4%) were tested initially in the first 2 years of life. From those who were tested between the age of 2-6 months (n = 22 patients), seven (31.8%) patients had thyroid abnormalities.
Thyroid abnormalities were seen in a remarkable proportion of DS patients. The detection of abnormalities in the patients with age range of 2-6 months demands the need for additional TFT in this age category apart from the standard recommendation. Early diagnosis and management of thyroid abnormalities are important to decrease further impairment of cognition function in children with DS.
亚临床甲状腺功能减退症(SCH)是唐氏综合征(DS)患者最常见的甲状腺异常。本研究旨在确定甲状腺异常的患病率和类型,评估诊断年龄,并检查资源有限环境中 DS 儿童的筛查实践。
对内分泌随访诊所就诊的 DS 患儿进行回顾性研究。数据从患者登记册和病历中收集。
共纳入 115 例 DS 患儿,其中 64 例(59.8%)为男性。他们的中位诊断年龄为 9 个月(范围 4-15 岁)。107 例(93%)患儿至少进行了一次甲状腺功能检查(TFT)。51 例(47.7%)患儿甲状腺功能异常。最常见的甲状腺异常是 SCH(30/107,28%),其次是先天性甲状腺功能减退症(11/107,10.3%)、显性甲状腺功能减退症(9/107,8.4%)和甲状腺功能亢进症(1/107,0.9%)。大多数患者(86/107,80.4%)在生命的头 2 年内首次接受检查。在 2-6 个月龄(n=22 例)接受检查的患者中,有 7 例(31.8%)存在甲状腺异常。
DS 患儿甲状腺异常的比例相当高。在 2-6 个月龄的患者中发现异常,除了标准推荐外,还需要对该年龄段进行额外的 TFT 检查。早期诊断和管理甲状腺异常对降低 DS 患儿认知功能进一步受损非常重要。