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RESEARCH PRODUCT
Developmental Abnormalities of the Thyroid
Joachim PohlenzJohnny DeladoëyGuy Van Vlietsubject
endocrine systemCandidate geneendocrine system diseasesbusiness.industryThyroidmedicine.diseaseBioinformaticsThyroid dysgenesisGermlineCongenital hypothyroidismmedicine.anatomical_structuremedicineEpigeneticsPAX8businessHormonedescription
Developmental anomalies of the thyroid gland (thyroid dysgenesis) underlie the majority of cases of congenital hypothyroidism. Only a small number of monogenic defects have been shown to result in athyreosis or orthotopic thyroid hyperplasia, whereas the commonest developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic hits in the germline and/or at the somatic level. This chapter gives a brief overview of the monogenic defects in candidate genes that have been identified so far and of the syndromes that are known to be associated with thyroid dysgenesis. In addition, we discuss gain-of-function mutations of the thyroid hormone stimulating receptor (TSHR) gene, which are a rare cause of congenital hyperthyroidism.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2016-01-01 |