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.

Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005–2009

“…Many studies [8,12-23] reported that the frequencies of additional birth defects with CH were between 8% and 20%, except that of a recent study by Reddy (59%) [24]. The present result (17%) was well within this range.…”

“…In the present study, PDA was found in one twin. A recent study by Reddy et al [24] reported that two out of ten patients had PDA in addition to CH. Other birth defects with CH in the present patients were hypospadias, cleft lip, and congenital genu recurvatum.…”

“…Another population-based study in the U.S. also showed that the incidence rates of CH in twins doubled as compared to that in singletons, and the incidence rate was even higher with triplets/+ [6]. Moreover, many studies reported a higher incidence rate of extrathyroidal additional birth defects among neonates with CH compared with the general population [8,12-24], especially congenital heart disease [8,14,17,21-25]. …”

Short‐term results of patients with neural tube defects followed‐up in the Konya region, Turkey

“…The prevalence of congenital hypothyroidism ranges from 1:2,000–4,000 worldwide and mutations in different genes are responsible for one part (LaFranchi & Huang, ). In a study by Reddy et al () they found the incidence of NTD as 41% in infants with congenital hypothyroidism. In our study, the incidence of hypothyroidism was found to be 7.5% and this increase can be associated with genetic factors.…”

Two Different Anesthesia Management of a Patient with Congenital Hypothyroidism and Bilateral Nephrolithiasis

“…KH predominant olarak kardiyak, nöral tüp defektleri ve dismorfik özelliklerin bulunduğu çoklu konjenital malformasyonlarla ilişkilidir. KH'de konjenital kalp hastalıklarının yüksek prevalansta gö-rülmesi nedeniyle bu hastalara rutin ekokardiyografi uygulanması gerektiği bildirilmektedir (4) . Ayrıca tiroid hormonunun aktif formu olan triiyodotironinin spesifik olarak miyokarda etki ettiği ve hem direkt hem de indirekt olarak kardiyak fonksiyonu etkilediği gösteril-miştir (5,6) .…”