目的 探讨IGSF1基因变异所致先天性中枢性甲状腺功能减退症患儿的临床表现及基因变异特点。 方法 回顾性分析4例2017年至2021年苏州大学附属儿童医院收治的4例患儿的临床资料、基因检测结果及随访数据。 结果 4例患儿均为男性。患儿1因新生儿期黄疸入院，患儿2、3因儿童期生长迟缓查甲状腺功能提示血清游离甲状腺素(FT4)稍低，患儿4在新生儿期发现FT4降低，基因检测发现4例患儿均携带IGSF1基因致病变异，且均遗传自母亲。给予患儿左旋甲状腺素口服并定期随访，复查甲状腺功能控制良好。 结论 IGSF1基因变异可导致先天性中枢性甲状腺功能减退，临床表现具有多样性，基因测序有助于早期确诊。 Objective To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene. Methods Clinical data, results of genetic testing, and follow-up of four patients admitted to Children′s Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed. Results All of the four patients were males. Patient 1 had presented as neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up. Conclusion Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.
Abstract
Objective To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene. Methods Clinical data, results of genetic testing, and follow-up of four patients admitted to Children′s Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed. Results All of the four patients were males. Patient 1 had presented as neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up. Conclusion Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.
关键词
IGSF1基因/先天性中枢性甲状腺功能低下/基因型-表型对应关系
Key words
IGSF1 gene/Congenital central hypothyroidism/Genotype-phenotype correlation
万方数据