甲状腺过氧化物酶基因的一种新复合杂合型突变(Y453D和C800R)男胎甲状腺肿和甲状腺功能减退的宫内治疗:一项长期随访研究

摘要

We report the results of intrauterine L- thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks’ gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.