title: High prevalence of associated birth defects in congenital hypothyroidism.
abstract: 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 (99m)Tc 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.
authors.affiliation: Department of Endocrinology and Metabolism, Sri Venkateswara Institute of Medical Sciences, Tirupati 517507, India.
authors.forename: P Amaresh
authors.initials: PA
authors.lastname: Reddy
authors.forename: G
authors.initials: G
authors.lastname: Rajagopal
authors.forename: C V
authors.initials: CV
authors.lastname: Harinarayan
authors.forename: V
authors.initials: V
authors.lastname: Vanaja
authors.forename: D
authors.initials: D
authors.lastname: Rajasekhar
authors.forename: V
authors.initials: V
authors.lastname: Suresh
authors.forename: Alok
authors.initials: A
authors.lastname: Sachan
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