Stoll C, Dott B, Alembik Y, Koehl C
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Ann Genet. 1999;42(1):17-20.
The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.
法国先天性甲状腺功能减退症（CH）国家新生儿筛查项目始于1978年。本研究的目的是确定先天性甲状腺外异常（ETA）在先天性甲状腺功能减退症（CH）婴儿中的发生率，并将其与1979年至1996年法国东北部出生缺陷监测系统的数据进行比较。在129例有充分数据的CH婴儿中，20例（15.5%）伴有先天性异常。76例持续性CH婴儿中有8例有ETA（10.5%），而53例暂时性甲状腺功能减退儿童中有12例有ETA（22.6%，p<0.05）。一些其他异常比一般人群中更为常见。9例婴儿有先天性心脏异常（6.9%）。这就提出了一个问题，即器官形成过程中活跃的致畸作用是否可能同时影响包括发育中的甲状腺在内的许多器官，导致相对较高比例的CH婴儿伴有先天性ETA。
