Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Department of Medicine, Washington Hospital Center, Washington, District of Columbia 20010.
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784.
Thyroid hemiagenesis (THA) constitutes a rare, congenital disorder that is characterized by an absence of one thyroid lobe. Because the pathogenesis and clinical significance of this malformation remain undefined, specific clinical recommendations are lacking, especially for asymptomatic cases.
The PubMed database was searched (years 1970 to 2017), and the following terms were used to retrieve the results: "thyroid hemiagenesis," "thyroid hemiaplasia," "one thyroid lobe agenesis," and "one thyroid lobe aplasia." Subsequently, reference sections of the retrieved articles were searched.
There is a noticeable susceptibility of subjects with THA to develop additional thyroid and nonthyroidal pathologies. In pathogenesis of concomitant thyroid pathologies, a chronic elevation in thyroid-stimulating hormone values may play an important role. Thus far, genetic studies failed to find a common genetic background of the anomaly, and the potential underlying cause was identified in a minority of the cases.
Patients with THA are prone to develop additional thyroid pathologies and theoretically might benefit from l-thyroxine treatment to lower the thyrotropin levels to those observed in the normal population. However, further research should be done to ascertain whether such intervention early in life would prevent development of associated thyroid conditions. At least, increased vigilance should be maintained to reveal all of the concomitant disorders as soon as possible during follow-up examinations. Application of high-throughput technologies enabling a genome-wide search for novel factors involved in thyroid embryogenesis might be the next step to expand the knowledge on THA pathogenesis.
甲状腺半发育不全（THA）是一种罕见的先天性疾病，其特征是单侧甲状腺缺失。由于这种畸形的发病机制和临床意义尚未明确，因此缺乏具体的临床建议，尤其是对于无症状病例。
在 PubMed 数据库中进行了搜索（1970 年至 2017 年），并使用以下术语检索结果：“甲状腺半发育不全”、“甲状腺半发育不全”、“单侧甲状腺叶发育不全”和“单侧甲状腺叶发育不全”。随后，搜索了检索到的文章的参考文献部分。
THA 患者发生其他甲状腺和非甲状腺疾病的风险明显增加。在伴发甲状腺疾病的发病机制中，促甲状腺激素值的慢性升高可能起着重要作用。迄今为止，遗传研究未能发现该异常的常见遗传背景，并且在少数病例中确定了潜在的潜在原因。
THA 患者易发生其他甲状腺疾病，理论上可以通过 l-甲状腺素治疗将促甲状腺激素水平降低至正常人群观察到的水平，从而从中受益。但是，应该进行进一步的研究以确定这种早期生活干预是否会预防相关甲状腺疾病的发生。至少，在随访检查中应保持高度警惕，尽快发现所有伴随的疾病。应用能够进行全基因组搜索新型涉及甲状腺胚胎发生的因素的高通量技术可能是扩展对 THA 发病机制的认识的下一步。
