Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations

Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations

IntroductionIt is rare for a euthyroid mother to carry a child with a fetal goiter. However, cases of congenital hypothyroidism (CH) caused by thyroid dyshormonogenesis have been reported. Even though gene mutations associated with fetal goiter have been reported in a few studies, the effects on int...

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Main Authors: Tania Maria Barreto Rodrigues, Marlon Messias da Conceição Silva, Magali Maciel Freitas, Zélia Maria Costa Duarte, Vitória Sousa Frutuoso, Mariana Teixeira Rodrigues, Ileana Gabriela Sanchez Rubio
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Endocrinology
Subjects:
fetal goiter
congenital hypothyroidism
thyroid peroxidase
mutations
neuropsychological evaluation
growth
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.671659/full

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