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Birth Defects Home > Research > Key Findings > Maternal Thyroid Disease as a Risk Factor for Craniosynostosis
Maternal Thyroid Disease as a Risk Factor for Craniosynostosis

Thyroid disease is the second most common hormone disorder affecting women of childbearing age. Both overactive thyroid, most often the result of Graves disease, and underactive thyroid are linked with adverse pregnancy outcomes.

Craniosynostosis occurs when the sutures (fibers) between the bones in an infant’s skull close too early. If not corrected with surgery, the condition leads to a deformed head shape, stunted brain growth, and increased pressure on the brain. This condition occurs in about 1 in 2,000 births.

Using data from a large national study, researchers looked at the link between maternal thyroid disease and craniosynostosis.

Researchers used data from the National Birth Defects Prevention Study (NBDPS) to analyze the link between maternal thyroid disease and craniosynostosis. The NBDPS is an ongoing, population-based, case-control study in nine states of genetic and environmental risk factors for major birth defects.

The infants in the study had craniosynostosis that was confirmed by radiographic imaging. The mothers were identified as having thyroid disease if they reported having a thyroid disorder or taking medicine to treat a thyroid disorder during pregnancy.

Important findings from this study include:

  • Mothers of infants with craniosynostosis were more than twice as likely to report thyroid disease (most likely Graves disease) or its treatment than were mothers of infants without the condition. This finding remained unchanged after researchers adjusted for other factors, including mother’s age, that might also affect risk.
  • Most infants with craniosynostosis (89%) had a single suture involved. Most (90%) had no other major, unrelated birth defects. The sagittal suture (running from the front to the back of the skull) was most commonly involved.
  • These findings are similar to those of past case reports of craniosynostosis after exposure to increased levels of thyroid hormone. Given how often maternal thyroid disease occurs, this link warrants more research.

Rasmussen SA, Yazdy MM, Carmichael SL, Jamieson DJ, Canfield MA, Honein MA, for the National Birth Defects Prevention Study. Maternal thyroid disease as a risk factor for craniosynostosis. Obstet Gynecol. 2007;110(2):369–77.

Date: January 14, 2008
Content source: National Center on Birth Defects and Developmental Disabilities

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