Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5586636 | Best Practice & Research Clinical Endocrinology & Metabolism | 2017 | 33 Pages |
Abstract
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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Authors
Rasha (Lecturer of Biochemistry), Stéphanie (Ph-Student), Jonathan D. (Pediatric Endocrinologist), Johnny (Pediatric Endocrinologist),