Article
Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.
The Journal of clinical endocrinology and metabolism - 1 Oct 2002
Brumm Harald, Pfeufer Arne, Biebermann Heike, Schnabel Dirk, Deiss Dorothee, Grüters Annette
Abstract excerpt
Neonatal TSH screening has been a major achievement for the early detection and treatment of primary congenital hypothyroidism. It nevertheless fails to reveal cases of central hypothyroidism caused by TSH levels in the low normal range. In the last 10 yr, homozygous mutations in the TSHbeta-subunit gene have been recognized as a cause of central hypothyroidism with isolated TSH deficiency. The most frequent...
Topics
- Alleles
- Female
- Gene Frequency
- Genetic Carrier Screening
- Germany
- Haplotypes
- Homozygote
- Humans
- Hypothyroidism
- Infant, Newborn
- Male
- Microsatellite Repeats
- Mutation
- Neonatal Screening
- Pedigree