Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene.: A long-term follow-up

被引：28
作者：
Börgel, K
Pohlenz, J
Holzgreve, W
Bramswig, JH
机构：
[1] Univ Munster, Childrens Hosp, Dept Pediat, D-4400 Munster, Germany
[2] Univ Mainz, Childrens Hosp, D-6500 Mainz, Germany
[3] Univ Basel, Dept Obstet & Gynecol, Basel, Switzerland
来源：
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2005年 / 193卷 / 03期
关键词：
fetal goiter; congenital hypothyroidism; intrauterine therapy; TPO gene;
D O I：
10.1016/j.ajog.2005.01.060
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
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. (c) 2005 Mosby, Inc. All rights reserved.
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收藏
页码：857 / 858
页数：2
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