English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Subjects who are heterozygous for  thyroid stimulating hormone receptor  ( TSHR ) gene mutations present various phenotypes that range from euthyroid to hyperthyrotropinemia. Similarly, heterozygous  dual oxidase 2  ( DUOX2 ) gene mutations result in variable phenotypes, such as transient congenital hypothyroidism, subclinical hyperthyrotropinemia, and euthyroid in children. Here, we describe an 8-year-old boy who had normal newborn screening results, but who developed nonautoimmune hypothyroidism at the age of 1 year and 8 months of age. He was heterozygous for previously reported  R450H-TSHR  mutation and heterozygous for a novel double mutant allele  A1323T-DUOX2  and  L1343F-DUOX2 . He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01–2.65 μg/kg/day corresponded to the dose taken by children homozygous for  R450H-TSHR  and by children with permanent congenital hypothyroidism. Therefore, the coexistence of a heterozygous  TSHR  mutation and a heterozygous  DUOX2  mutation may have affected the severity of his hypothyroid condition.

Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene