Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università degli Studi di Pisa, Via Paradisa 2, 56124 Cisanello, Pisa, Italy.
Mol Cell Endocrinol. 2010 Jun 30;322(1-2):64-71. doi: 10.1016/j.mce.2010.03.009. Epub 2010 Mar 17.
Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a relatively frequent endocrine disease in newborns (1 in 3000-4000 live births). TD is a defect in the organogenesis of the gland resulting in hypoplastic, ectopic or absent-thyroid gland. TD is usually sporadic but mutations in transcription factors (PAX8, TTF1, FOXE1 and NKX2-5) involved in thyroid development have been shown to cause a minority of cases transmitted as Mendelian diseases. This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations.
甲状腺发育不全（TD）是先天性甲状腺功能减退症（CH）的最常见原因，CH 是新生儿中相对常见的内分泌疾病（每 3000-4000 例活产中就有 1 例）。TD 是腺体发生缺陷导致甲状腺发育不全、异位或无甲状腺。TD 通常是散发性的，但参与甲状腺发育的转录因子（PAX8、TTF1、FOXE1 和 NKX2-5）突变已被证明会导致少数作为孟德尔疾病遗传的病例。这篇综述重点介绍了 PAX8 和 TTF1 突变导致的甲状腺功能减退症和 TD 的遗传学和表型。
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