Novel TSHβ subunit gene mutation causing congenital central hypothyroidism in a newborn male

Alba E. Morales, Jing Da Shi, Cong Yi Wang, Jin Xiong She, Andrew Muir

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Newborn screening programs that use only high TSH levels as a marker for hypothyroidism may overlook neonates with congenital hypothyroidism (CH) due to TSH deficiency. We sought the cause of TSH deficiency in a neonate with low levels of thyroxine and TSH. The coding region of the TSHβ gene was amplified and its sequence examined for mutations. Two mutations in exon 3 were identified: 1) a nucleotide deletion of T410 in codon 105 resulting in a frameshift in one allele, and 2) a previously unreported nucleotide deletion of T266 in codon 57, causing a frameshift and a premature stop at codon 62 in the other allele. We describe a compound heterozygous patient with TSHβ mutations at codons 57 and 105 that interfered with a critical disulfide bond in the TSH molecule and caused CH. State screening programs that measure both T4 and TSH levels have the potential to detect newborns with congenital central hypothyroidism.

Original languageEnglish
Pages (from-to)355-359
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3
StatePublished - 2004


  • Central hypothyroidism
  • Compound heterozygote
  • TSH
  • TSHβ gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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