Abstract

Pathogenic variants in TSHB are known to cause severe isolated central congenital hypothyroidism (CH). In this study, we present the clinical, biochemical, and genetic features of the first patient with a mild central CH phenotype. We identified a novel homozygous variant in TSHB: (Chr1: NM_000549.5):c.290A>G p.(Tyr97Cys) in a newborn girl detected by neonatal CH screening, whose central CH was initially overlooked because of misinterpretation of her plasma-free thyroxine (fT4) concentration. This report adds to the phenotypic spectrum of TSHB variants and underlines the importance of using age-specific fT4 reference intervals to diagnose central CH.
Original languageEnglish
Pages (from-to)472-474
Number of pages3
JournalThyroid
Volume32
Issue number4
DOIs
Publication statusPublished - 1 Apr 2022

Keywords

  • TSHβ
  • isolated central congenital hypothyroidism
  • protein modeling

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