de Vijlder Jan J M
Department of Paediatric Endocrinology, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Eur J Endocrinol. 2003 Oct;149(4):247-56. doi: 10.1530/eje.0.1490247.
The thyroid gland is the only source of thyroid hormone production. Thyroid hormone is essential for growth and development, and is of special importance for the development of the central nervous system. It was for that reason that neonatal screening on congenital hypothyroidism was introduced and is now performed in many countries. Defects in thyroid hormone production are caused by several disorders in hormone synthesis and in the development of the thyroid gland (primary hypothyroidism) or of the pituitary gland and hypothalamus (central hypothyroidism). This paper describes defects in the synthesis of thyroid hormone caused by disorders in the synthesis or iodination of thyroglobulin, leakage of iodinated proteins by a stimulated thyroid gland and the presence of abnormal iodoproteins, mainly iodinated albumin, in the thyroid gland and blood circulation. Circulating thyroglobulin and abnormal iodoproteins, as well as the breakdown products of these iodoproteins excreted in urine, are used for etiological diagnosis and classification. Moreover, our finding of an enzyme that catalyses the dehalogenation of iodotyrosines, which is important for iodine recycling and required for economical use of iodine, is also referred to.
甲状腺是甲状腺激素产生的唯一来源。甲状腺激素对生长发育至关重要，对中枢神经系统的发育尤为重要。正因如此，新生儿先天性甲状腺功能减退症筛查得以开展，目前在许多国家都有进行。甲状腺激素产生缺陷是由激素合成以及甲状腺（原发性甲状腺功能减退症）、垂体和下丘脑（中枢性甲状腺功能减退症）发育中的多种疾病引起的。本文描述了由甲状腺球蛋白合成或碘化紊乱、受刺激的甲状腺释放碘化蛋白以及甲状腺和血液循环中存在异常碘化蛋白（主要是碘化白蛋白）导致的甲状腺激素合成缺陷。循环甲状腺球蛋白和异常碘化蛋白，以及这些碘化蛋白在尿液中排泄的分解产物，用于病因诊断和分类。此外，还提及了我们发现的一种催化碘酪氨酸脱卤的酶，该酶对碘循环很重要，且是碘经济利用所必需的。
