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Article

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism

20 Aug 2019

Abstract excerpt

Background Permanent primary congenital hypothyroidism (CH) can be caused by thyroid dysgenesis or dyshormonogenesis. A molecular genetic study is recommended in dyshormonogenesis, in syndromic hypothyroidism and when there is a family history of CH. The aim of this study was to identify a monogenic etiology for CH in selected individuals from a cohort of primary permanent CH. Methods From an initial cohort of 79...

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PMID: 31430255
DOI: 10.1515/jpem-2019-0047

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