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Article

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.

European journal of endocrinology - 1 Nov 2020

Stoupa Athanasia, Al Hage Chehade Ghada, Kariyawasam Dulanjalee, Tohier Celine, Bole-Feysot Christine, Nitschke Patrick, Thibault Helene, Jullie Marie-Laure, Polak Michel, Carré Aurore

Abstract excerpt

BACKGROUND: Among patients with congenital hypothyroidism, 35% have dyshormonogenesis (DH) with thyroid gland in situ with or without goiter. The majority of DH cases are due to mutations in genes involved in thyroid hormone production as TG, TPO, SLC5A5/NIS, SLC26A4/PDS, IYD/DEHAL1, DUOX2, and DUOXA2, and are usually inherited on an autosomal recessive basis. Most previously reported cases of fetal...

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PMID: 32805706
DOI: 10.1530/EJE-20-0255

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