Sanyal Debmalya, Bhattacharjee Kingshuk
Department of Endocrinology, KPC Medical College, Kolkata, India.
Rabindranath Tagore International Institute of Cardiac Sciences, Kolkata, India.
Indian J Endocrinol Metab. 2020 Sep-Oct;24(5):406-409. doi: 10.4103/ijem.IJEM_422_20. Epub 2020 Nov 9.
Hyperthyrotropinemia (HT) or reduced thyroid function in Down syndrome (DS) is not uncommon, causes range from glandular dysgenesis to altered hypothalamopituitary axis. In the present study, we have compared hypothyroid Indian children with and without DS (NDS), especially focusing on family history, goiter, and biochemical features.
We conducted this retrospective observational study from previous medical records of children with DS (1-17 years) having an elevated TSH (≥5 mIU/L) who were consecutively referred for with HT to Endocrinology OPD of a tertiary care hospital in India. Records from hypothyroid children (1-17 years) without Down Syndrome (NDS) were evaluated as controls. Free thyroxine (FT4), anti-thyroid peroxidase (TPO) antibody were measured and congenital hypothyroidism was excluded in all subjects.
Thirty-four DS cases [median age 8 years (IQR: 2-14), M: = 13:21] and 34 controls [median age 10.5 years (IQR: 7-13.25), M: = 13:21] were comparable in terms of age and sex, Median age of presentation was significantly earlier in case of DS vs NDS [7 years vs. 10 years]. DS children had significantly less family history of thyroid disorders compared to NDS [14.7% vs 64.7%]. Goiter was significantly less common in patients with DS [DS - 32.25% vs. NDS - 73.5%, = 0.001]. Anti-TPO antibody positivity was significantly less common in patients with DS [DS- 41% vs. NDS- 73.5%, = 0.014].
There is a significant difference in presentation in hypothyroid children with DS compared to NDS. DS children with hypothyroidism compared to NDS, had earlier presentation, lower incidence of traceable family history, goiter, and anti-TPO-antibody positivity.
唐氏综合征（DS）患者中促甲状腺激素水平升高（HT）或甲状腺功能减退并不罕见，其病因从腺体发育不全到下丘脑 - 垂体轴改变不等。在本研究中，我们比较了患有和未患有DS（NDS）的甲状腺功能减退印度儿童，特别关注家族史、甲状腺肿和生化特征。
我们对印度一家三级医院内分泌科门诊连续转诊的TSH升高（≥5 mIU/L）的DS儿童（1 - 17岁）的既往病历进行了这项回顾性观察研究。将无唐氏综合征（NDS）的甲状腺功能减退儿童（1 - 17岁）的记录作为对照进行评估。测量游离甲状腺素（FT4）、抗甲状腺过氧化物酶（TPO）抗体，并排除所有受试者的先天性甲状腺功能减退。
34例DS病例[中位年龄8岁（四分位间距：2 - 14），男∶女 = 13∶21]和34例对照[中位年龄10.5岁（四分位间距：7 - 13.25），男∶女 = 13∶21]在年龄和性别方面具有可比性，DS患者的中位就诊年龄明显早于NDS患者[7岁对10岁]。与NDS相比，DS儿童甲状腺疾病家族史明显较少[14.7%对64.7%]。甲状腺肿在DS患者中明显较少见[DS - 32.25%对NDS - 73.5%，P = 0.001]。抗TPO抗体阳性在DS患者中明显较少见[DS - 41%对NDS - 73.5%，P = 0.014]。
与NDS相比，患有甲状腺功能减退的DS儿童在临床表现上存在显著差异。与NDS相比，患有甲状腺功能减退的DS儿童就诊更早，可追溯的家族史、甲状腺肿和抗TPO抗体阳性的发生率更低。
