A search for the possible molecular mechanisms of thyroid dysgenesis:: Sex ratios and associated malformations
A search for the possible molecular mechanisms of thyroid dysgenesis:: Sex ratios and associated malformations
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DOI：
10.1210/jc.84.7.2502
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发表时间：
1999-07-01
影响因子：
5.8
通讯作者：
Van Vliet, G
中科院分区：
文献类型：
--
作者：
Devos, H;Rodd, C;Van Vliet, G
永久性先天性甲状腺功能减退症(CH)可由甲状腺分化异常(甲亢)、移行(异位)或功能异常(导致甲状腺肿)引起。甲状腺肿大遵循常染色体隐性遗传模式，而异位和甲状旁腺功能亢进被认为是以女性为主的单个散发实体。另一方面，甲状腺外畸形在CB中的发病率很高，但没有将特定的缺陷与特定类型的CN联系起来。在TSH筛查的基础上，在1988至1997年间，273名新生儿被转诊到魁北克省一家学术儿科内分泌诊所。230例确诊为永久性原发CN的患者中，异位141例(104女)，甲亢36例(21女)，甲状腺肿大42例(18女)，正常10例(3女)，畸形1例。只有在异位中，女孩的比例显著高于0.5%(P<；0.001)。在7名患者(3.0%)中观察到孤立的心脏畸形，患病率是普通人群的5倍；这主要是由于房间隔和室间隔缺陷，这只在异位和心律失常中才能观察到。我们的数据表明，导致完全缺乏甲状腺分化或有缺陷的甲状腺迁移的分子机制1)可能相似，但受胚胎的遗传组成和/或胎儿激素环境的调节；2)也可能参与胚胎心脏的隔膜。
Permanent primary congenital hypothyroidism (CH) can be caused by abnormal thyroid differentiation (athyreosis), migration (ectopy), or function (leading to goiter). Goiters follow an autosomal recessive pattern of inheritance, whereas ectopy and athyreosis are considered as a single sporadic entity with a female preponderance. On the other hand, a high prevalence of extrathyroidal malformations has been reported in CB, but without linking specific defects to specific types of CN. On the basis of TSH screening, 273 newborns were referred to an academic pediatric endocrinology clinic in the province of Quebec between 1988 and 1997. Of 230 patients with permanent primary CN who had scintigraphy at diagnosis, 141 had ectopy (104 girls), 36 had athyreosis (21 girls), 42 had goiter (18 girls), 10 (3 girls) had a normal scan, and 1 girl had hemiagenesis. Only in the ectopies was the proportion of girls girls significantly higher than 0.5 (P < 0.001). Isolated cardiac malformations were observed in 7 patients (3.0%), a prevalence 5-fold higher than that in the general population; this was largely due to atrial and ventricular septal defects, which were only observed in ectopy and athyreosis. Our data suggest that the molecular mechanisms that lead to complete absence of thyroid differentiation or defective thyroid migration 1) may be similar, but are modulated by the genetic makeup of the embryo and/or the hormonal milieu of the fetus; and 2) may also be involved in septation of the embryonic heart.