Familial DUOX2 mutation：diagnosis and treatment of fetal goiter and hypothyroidism
10.3760/cma.j.cn131148-20241209-00637
- VernacularTitle:家族性DUOX2基因突变胎儿甲状腺肿和甲状腺功能减退症诊断与治疗1例
- Author:
Qin LIN
1
;
Kexuan LIU
;
Jiangli DONG
;
Jiali YU
;
Jiangyi ZHAO
;
Zhu OUYANG
;
Ganqiong XU
Author Information
1. 中南大学湘雅二医院超声医学科，长沙 410011
- Publication Type:Journal Article
- Keywords:
Prenatal diagnosis;
Fetal goiter;
Hypothyroidism;
Gene
- From:
Chinese Journal of Ultrasonography
2025;34(6):533-536
- CountryChina
- Language:Chinese
-
Abstract:
The pregnant woman was 39 years old，G2P1，a fetal goiter was found at 25 weeks at the Second Xiangya Hospital of Central South University，and thyroid function was normal during the pregnancy. Amniocentesis revealed the presence of two DUOX2 mutations in fetal DNA：c.3340delC（P.L1114Sfs56）in exon 25 and c.2654G＞A（p.R885Q）in exon 20，which were determined to be heritable by familial genetic testing. Many fetal and neonatal ultrasounds have shown goiter，rich blood flow in the parenchyma and low postnatal thyroid hormone levels led to the diagnosis of congenital hypothyroidism. The patient was given L-thyroxine 30 μg/d. After 3 months of follow-up，the thyroid function was normal without developmental problems.
