Congenital hypothyroidism: insights into pathogenesis and treatment.
Congenital hypothyroidism: insights into pathogenesis and treatment.
复制标题
DOI：
10.1186/s13633-017-0051-0
复制
发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Wassner AJ
中科院分区：
文献类型：
--
作者：
Cherella CE;Wassner AJ
先天性甲状腺功能减退症发生在大约1/2000的新生儿，如果没有及时发现和治疗，可能会产生破坏性的神经发育后果。在发达国家，新生儿筛查几乎根除了因严重先天性甲状腺功能减退症而导致的智力残疾，但更严格的筛查策略导致轻度先天性甲状腺功能减退症的检出率增加。最近的研究提供了关于轻度先天性甲状腺功能减退症造成的潜在神经发育风险的相互矛盾的证据，强调需要进行额外的研究，以进一步确定这些患者面临的风险以及他们是否可能从治疗中获益。此外，虽然近几十年来先天性甲状腺功能减退症的明显发病率有所增加，但在大多数情况下，其根本原因仍然不清楚。然而，正在进行的研究先天性甲状腺功能减退症的遗传原因继续揭示下丘脑-垂体-甲状腺轴的发展和生理学的新的光。IGSF 1作为中枢性先天性甲状腺功能减退症的原因的鉴定揭示了垂体促甲状腺激素和促性腺激素的潜在新的调节途径，同时越来越多的证据表明，相当大比例的原发性先天性甲状腺功能减退症可能是由参与甲状腺发育和功能的多个基因中的罕见遗传变异的组合引起的。关于这种常见疾病的起源以及对受影响较小的婴儿的最佳管理，仍有很多东西有待了解。
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment. Moreover, while the apparent incidence of congenital hypothyroidism has increased in recent decades, the underlying cause remains obscure in most cases. However, ongoing research into genetic causes of congenital hypothyroidism continues to shed new light on the development and physiology of the hypothalamic-pituitary-thyroid axis. The identification of IGSF1 as a cause of central congenital hypothyroidism has uncovered potential new regulatory pathways in both pituitary thyrotropes and gonadotropes, while mounting evidence suggests that a significant proportion of primary congenital hypothyroidism may be caused by combinations of rare genetic variants in multiple genes involved in thyroid development and function. Much remains to be learned about the origins of this common disorder and about the optimal management of less severely-affected infants.