High prevalence of associated birth defects in congenital hypothyroidism.
High prevalence of associated birth defects in congenital hypothyroidism.
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DOI：
10.1155/2010/940980
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发表时间：
2010
期刊：
影响因子：
--
通讯作者：
Sachan A
中科院分区：
文献类型：
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作者：
Reddy PA;Rajagopal G;Harinarayan CV;Vanaja V;Rajasekhar D;Suresh V;Sachan A
瞄准识别先天性甲状腺功能减退症患者的畸形特征以及心脏、骨骼和泌尿生殖系统异常。患者和方法。 招募了17名患有先天性原发性甲状腺功能减退症的儿童。通过甲状腺超声和99mTc放射性核素甲状腺显像确定先天性甲状腺功能减退症的病因。通过临床检查、超声心动图、腰椎X线检查和腹部超声检查确定畸形。结果10例（59%）患者（6例男性和4例女性）有先天性畸形。2例有一种以上的先天性畸形（脊柱裂和继发性房间隔缺损）。5例（29%）有心脏畸形，其中3例仅为骨继发性房间隔缺损（ASD），1例仅为动脉导管未闭（PDA），1例ASD和PDA均存在。7名患者（41%）有隐性脊柱裂形式的神经管缺陷。结论我们的研究表明，所有先天性甲状腺功能减退症患者都需要常规超声心动图检查。
Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and 99mTc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59%) patients (6 males and 4 females) had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect). Five (29%) had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD), one had only patent ductus arteriosus (PDA), and one patient had both ASD and PDA. Seven patients (41%) had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.