Disorders of Thyroid Morphogenesis

Publication date: Available online 21 April 2017
Source:Best Practice & Research Clinical Endocrinology & Metabolism
Author(s): Rasha Abu-Khudir, Stéphanie Larrivée-Vanier, Jonathan Wasserman, Johnny Deladoëy
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of incidence by ethnicity and the monogenic defects associated mainly with athyreosis or orthotopic thyroid hypoplasia, suggest a genetic contribution. Of note, the most common developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic variants in the germline and/or at the somatic level. This review provides a brief overview of the monogenic defects in candidate genes that have been identified so far and of the syndromes which are known to be associated with thyroid dysgenesis.



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