Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene
- 1 April 1992
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 1 (1), 56-58
- https://doi.org/10.1038/ng0492-56
Abstract
Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific transcription activator, Pit-1/GHF-1 (designated PIT1 in humans for pituitary specific factor 1). This is the first report in humans of a defect in a transcription activator causing deficiency of multiple target genes.Keywords
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