Article
Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.
The Journal of clinical endocrinology and metabolism - 1 May 1998
Doeker B M, Pfäffle R W, Pohlenz J, Andler W
Abstract excerpt
A 5-month-old infant of nonconsanguineous parents had severe hypothyroidism. Undetectable serum levels of T3 and T4 in combination with an undetectable baseline TSH level led to the diagnosis of central hypothyroidism. Administration of TRH failed to increase serum TSH, but not PRL, confirming is...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- Congenital Hypothyroidism
- Female
- Gene Deletion
- Genotype
- Homozygote
- Humans
- Hypothyroidism
- Infant
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Prolactin
- Sequence Analysis, DNA
- Thyrotropin
- Thyrotropin-Releasing Hormone