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High prevalence of associated birth defects in congenital hypothyroidism

P Amaresh Reddy1, G Rajagopal, C V Harinarayan

  • 1Department of Endocrinology and Metabolism, Sri Venkateswara Institute of Medical Sciences, Tirupati 517507, India.

International Journal of Pediatric Endocrinology
|May 11, 2010
PubMed

Insights

Congenital hypothyroidism in children is often linked to other birth defects. This study found that nearly 60% of patients had malformations, highlighting the need for cardiac screening.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Medical Genetics

Background:

  • Congenital hypothyroidism (CH) is a common endocrine disorder in newborns.
  • Associated congenital anomalies can impact patient management and outcomes.

Purpose of the Study:

  • To investigate the prevalence of dysmorphic features and anomalies in cardiac, skeletal, and urogenital systems among children with CH.
  • To determine the necessity of routine cardiac screening in CH patients.

Main Methods:

  • Seventeen children diagnosed with congenital primary hypothyroidism were evaluated.
  • Thyroid ultrasound and (99m)Tc radionuclide thyroid scintigraphy were used to determine the cause of CH.
  • Clinical examination, echocardiography, lumbar spine X-ray, and abdominal ultrasonography identified malformations.

Main Results:

  • Congenital malformations were present in 10 (59%) of the 17 patients.
  • Cardiac malformations, including atrial septal defect (ASD) and patent ductus arteriosus (PDA), occurred in 5 (29%) patients.
  • Neural tube defects, specifically spina bifida occulta, were found in 7 (41%) patients.

Conclusions:

  • Congenital hypothyroidism is frequently associated with congenital malformations.
  • Routine echocardiography is recommended for all patients diagnosed with congenital hypothyroidism to screen for cardiac defects.

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