Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome

F1000prime Reports
Guy Van Vliet, Johnny Deladoëy

Abstract

Permanent primary congenital hypothyroidism (CH), the commonest cause of preventable intellectual disability, is due to defects in the embryonic development of the thyroid in the vast majority of cases. These defects are collectively called thyroid dysgenesis. The thyroid may be absent (athyreosis) but, more commonly, a sublingual thyroid ectopy without lateral lobes, is the only thyroid tissue present. Such an ectopy presumably results from an arrest in the downward migration of the median anlage. Thyroid ectopy almost always occurs in a sporadic fashion. However, first-degree relatives are affected more often than chance alone would predict. On the other hand, almost all reported monozygotic twin pairs are discordant for thyroid ectopy. Current research is aimed at reconciling these contradictory epidemiological data. We propose a two-hit mechanism associating a germline predisposing factor with another genetic or epigenetic alteration within the ectopic thyroid tissue itself or, as in some forms of Kallmann syndrome, in the structures surrounding the thyroid during embryogenesis. Thyroid ectopy, a model for sporadic congenital malformations in humans, is also associated with congenital heart disease, and molecular mechanisms...Continue Reading

Citations

Mar 13, 2016·Archives of Sexual Behavior·Kathryn MacapagalBrian Mustanski
Oct 17, 2018·European Journal of Endocrinology·C PetersN Schoenmakers
Mar 3, 2021·Endocrine·Athanasia StoupaAurore Carré

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BETA
exome sequencing

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