Gorini Francesca, Coi Alessio, Pierini Anna, Assanta Nadia, Bottoni Antonio, Santoro Michele
Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Foundation Gabriele Monasterio CNR-Regione Toscana, 56124 Pisa, Italy.
Children (Basel). 2024 Apr 25;11(5):513. doi: 10.3390/children11050513.
This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003-2017. The prevalence of CH and OH in DS patients was calculated by sex and by period. The association of CH and OH with CHDs in DS patients was assessed using multivariate logistic regression. The cohort included 228 subjects. The prevalence of CH and OH was 11.4% (95%CI: 7.4-16.7%) and 12.7% (95%CI: 8.5-12.3%), respectively, with no significant difference by sex. A significant increase in the prevalence of CH ( < 0.0001) was found in the years 2010-2017 compared to the previous period, and among preterm infants ( = 0.009). The presence of CH was associated with a higher prevalence of CHDs (adjusted OR = 2.24, = 0.082). A significant association between ventricular septal defects (VSDs) and the occurrence of OH (adjusted OR = 3.07, = 0.025) was also observed. This study confirmed the higher prevalence of both CH and OH in DS compared to the general population. Furthermore, the risk of association between DS and CHDs was higher in the presence of CH, while VSDs are associated with OH, providing relevant insights into the epidemiology of hypothyroidism in DS and associated anomalies.
这项基于人群的研究旨在评估唐氏综合征（DS）患者先天性甲状腺功能减退症（CH）和显性甲状腺功能减退症（OH）的患病率及其与先天性心脏病（CHD）的关联。研究人群包括2003年至2017年期间居住在托斯卡纳（意大利）、在先天性缺陷登记处和托斯卡纳罕见病登记处记录的所有确诊为DS的活产儿。按性别和时期计算DS患者中CH和OH的患病率。使用多因素逻辑回归评估DS患者中CH和OH与CHD的关联。该队列包括228名受试者。CH和OH的患病率分别为11.4%（95%CI：7.4-16.7%）和12.7%（95%CI：8.5-12.3%），性别间无显著差异。与前一时期相比，2010年至2017年期间CH的患病率显著增加（<0.0001），在早产儿中也有显著增加（=0.009）。CH的存在与CHD的较高患病率相关（调整后的OR=2.24，=0.082）。还观察到室间隔缺损（VSD）与OH的发生之间存在显著关联（调整后的OR=3.07，=0.025）。这项研究证实，与一般人群相比，DS患者中CH和OH的患病率更高。此外，在存在CH的情况下，DS与CHD之间的关联风险更高，而VSD与OH相关，这为DS患者甲状腺功能减退症的流行病学及相关异常提供了相关见解。
