Craniosynostosis and risk factors related to thyroid dysfunction

Carmichael, S.; Ma, Chen; Rasmussen, Sa A.; Cunningham, M. L.; Browne, Ml L.; Dosiou, Chrysoula; Lammer, Ej J.; Shaw, Gary M.

doi:10.1002/ajmg.a.36953

Cited by 24 publications

(24 citation statements)

References 50 publications

(63 reference statements)

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“…Large-scale surveillance studies, case studies, as well as cohort studies have identified thyroid hormones as an important influencing factor in calvarial growth and development; as well as, incidence of craniosynostosis [5, 9–18]. During normal calvarial development, the sutures are formed between the calvarial bones.…”

Section: Introductionmentioning

confidence: 99%

Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth

Howie¹,

Durham²,

Black³

et al. 2016

PLoS ONE

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Large scale surveillance studies, case studies, as well as cohort studies have identified the influence of thyroid hormones on calvarial growth and development. Surveillance data suggests maternal thyroid disorders (hyperthyroidism, hypothyroidism with pharmacological replacement, and Maternal Graves Disease) are linked to as much as a 2.5 fold increased risk for craniosynostosis. Craniosynostosis is the premature fusion of one or more calvarial growth sites (sutures) prior to the completion of brain expansion. Thyroid hormones maintain proper bone mineral densities by interacting with growth hormone and aiding in the regulation of insulin like growth factors (IGFs). Disruption of this hormonal control of bone physiology may lead to altered bone dynamics thereby increasing the risk for craniosynostosis. In order to elucidate the effect of exogenous thyroxine exposure on cranial suture growth and morphology, wild type C57BL6 mouse litters were exposed to thyroxine in utero (control = no treatment; low ~167 ng per day; high ~667 ng per day). Thyroxine exposed mice demonstrated craniofacial dysmorphology (brachycranic). High dose exposed mice showed diminished area of the coronal and widening of the sagittal sutures indicative of premature fusion and compensatory growth. Presence of thyroid receptors was confirmed for the murine cranial suture and markers of proliferation and osteogenesis were increased in sutures from exposed mice. Increased Htra1 and Igf1 gene expression were found in sutures from high dose exposed individuals. Pathways related to the HTRA1/IGF axis, specifically Akt and Wnt, demonstrated evidence of increased activity. Overall our data suggest that maternal exogenous thyroxine exposure can drive calvarial growth alterations and altered suture morphology.

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Section: Introductionmentioning

confidence: 99%

Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth

Howie¹,

Durham²,

Black³

et al. 2016

PLoS ONE

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“…Other teratogens affecting the mouth have been defined in animal studies, for example, dioxins and dithiocarbamates . Maternal health challenges have also been associated with mouth anomalies, including diabetes and hyperthyroidism . Overall, the landscape of human mouth developmental anomalies is multifactorial, evolving and incomplete.…”

Section: Steps To Form a Mouth: Xenopus As A Paradigmmentioning

confidence: 99%

“…87 Maternal health challenges have also been associated with mouth anomalies, including diabetes 88 and hyperthyroidism. 89 Overall, the landscape of human mouth developmental anomalies is multifactorial, evolving and incomplete.…”

Section: Human Craniofacial Anomalies Involving the Mouthmentioning

confidence: 99%

Mouth development

Chen

Jacox

Saldanha

et al. 2017

WIREs Developmental Biology

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A mouth is present in all animals, and comprises an opening from the outside into the oral cavity and the beginnings of the digestive tract to allow eating. This review focuses on the earliest steps in mouth formation. In the first half, we conclude that the mouth arose once during evolution. In all animals, the mouth forms from ectoderm and endoderm. A direct association of oral ectoderm and digestive endoderm is present even in triploblastic animals, and in chordates, this region is known as the extreme anterior domain (EAD). Further support for a single origin of the mouth is a conserved set of genes that form a ‘mouth gene program’ including foxA and otx2. In the second half of this review, we discuss steps involved in vertebrate mouth formation, using the frog Xenopus as a model. The vertebrate mouth derives from oral ectoderm from the anterior neural ridge, pharyngeal endoderm and cranial neural crest (NC). Vertebrates form a mouth by breaking through the body covering in a precise sequence including specification of EAD ectoderm and endoderm as well as NC, formation of a ‘pre‐mouth array,’ basement membrane dissolution, stomodeum formation, and buccopharyngeal membrane perforation. In Xenopus, the EAD is also a craniofacial organizer that guides NC, while reciprocally, the NC signals to the EAD to elicit its morphogenesis into a pre‐mouth array. Human mouth anomalies are prevalent and are affected by genetic and environmental factors, with understanding guided in part by use of animal models. WIREs Dev Biol 2017, 6:e275. doi: 10.1002/wdev.275For further resources related to this article, please visit the WIREs website.

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“…Hypo-and hyperthyroidism, as well as the presence of thyroid antibodies in the absence of thyroid disease, are associated with increased risk of adverse pregnancy outcomes such as spontaneous abortion and preterm delivery [26][27][28]. Risk factors for thyroid disease include maternal age >30, family history of autoimmune thyroid disease, infertility, diabetes, morbid obesity, and iodine deficiency, some of which have been suggested to be associated with risk of CS [29].…”

Section: Maternal-fetal Thyroid Function and Hypothesesmentioning

confidence: 99%

Craniosynostosis: The Potential Contribution of Thyroid-Related Mechanisms

2015

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Craniosynostosis, the premature fusion of one or more cranial sutures, leads to abnormal craniofacial form and function. Its causes remain largely unknown. One of the strongest clues regarding non-syndromic craniosynostosis etiology is its association with thyroid-related disorders, which is based on a mix of epidemiologic and experimental findings. This paper reviews evidence for the contribution of thyroidrelated mechanisms to craniosynostosis and makes recommendations for how to improve this knowledge.

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Craniosynostosis and risk factors related to thyroid dysfunction

Cited by 24 publications

References 50 publications

Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth

Effects of In Utero Thyroxine Exposure on Murine Cranial Suture Growth

Mouth development

Craniosynostosis: The Potential Contribution of Thyroid-Related Mechanisms

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