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首页> 外文期刊>American journal of medical genetics, Part A >Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.
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Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.

机译：具有DUOX2突变和孕妇碘过多的患者的先天性甲状腺功能减退症延迟发作。

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摘要

Congenital hypothyroidism (CH), one of the most common congenital endocrine disorders, causes irreversible intellectual disability in untreated patients. Today, the vast majority of patients receive early diagnosis and treatment in the context of newborn screening for CH, and achieve satisfactory cognitive development. However, a subset of patients with delayed onset are undetectable by newborn screening, and miss benefit from early intervention. Here, we report on a delayed-onset CH patient that had two contributing factors in the pathogenesis of CH simultaneously, i.e., a genetic defect and iodine excess. The patient was exposed to excessive iodine in utero because her mother consumed massive amounts of seaweed during pregnancy. Surprisingly, the patient had a negative result in newborn screening, but developed overt CH at age 3 months. She received thyroxine supplementation until when normalization of the thyroid function was confirmed at age 3 years (i.e., transient CH). Mutation screening for DUOX2, a causative gene for transient CH, showed biallelic mutations (p.[E327X]?+?[H678R]). This report provides a new example of environmental modification of phenotypes of CH due to a genetic defect, which can potentially distort screening results.
机译：先天性甲状腺功能减退症（CH）是最常见的先天性内分泌疾病之一，在未经治疗的患者中引起不可逆的智力残疾。如今，绝大多数患者在新生儿CH筛查中得到早期诊断和治疗，并获得令人满意的认知发展。然而，新生儿筛查无法检测到一部分延迟发作的患者，并且错过了早期干预的益处。在这里，我们报道了一位延迟发作的CH患者，该患者在CH的发病机理中同时具有两个影响因素，即遗传缺陷和碘过量。该患者的子宫内暴露有过量的碘，因为她的母亲在怀孕期间消耗了大量海藻。令人惊讶的是，该患者的新生儿筛查结果为阴性，但在3个月大时出现了明显的CH。她接受甲状腺素补充，直到3岁时确认甲状腺功能正常（即短暂性CH）。 DUOX2（一种短暂的CH的致病基因）的突变筛选显示出双等位基因突变（p。[E327X]？+？[H678R]）。这份报告提供了一个新的例子，说明由于遗传缺陷而导致的CH表型在环境上的修饰，这可能会扭曲筛选结果。

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