Paediatric Endocrinology Unit and INSERM U363, Hôpital Necker Enfants-Malades, Paris, France.
Horm Res Paediatr. 2010;73(4):231-7. doi: 10.1159/000284386. Epub 2010 Mar 9.
The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asymptomatic individuals. These studies strongly suggest the existence of a familial component of this disorder involving dominant genetic predisposition factors with a low penetrance.
甲状腺发育不良的病理生理学仍不清楚，直到最近，这种疾病通常被认为是散发性的。然而，通过对先天性甲状腺功能减退症患者的研究，已经确定了一小部分但意义重大的家族病例（2%），最近的研究还揭示了在有症状和无症状个体中，家族性甲状腺发育不良的比例更高。这些研究强烈表明，这种疾病存在家族成分，涉及低外显率的显性遗传易感性因素。
