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

Abstract excerpt

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 TSHbeta gene was amplified and its sequence examined for mutations. Two mutations in exon 3 were identified: 1) a nucleotide deletion...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Hypothyroidism
• Share to Fertilization in Vitro