Article
Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.
The Journal of clinical endocrinology and metabolism - 1 Apr 2001
Hendriks-Stegeman B I, Augustijn K D, Bakker B, Holthuizen P, van der Vliet P C, Jansen M
Abstract excerpt
The POU homeodomain containing transcriptional activator POU1F1, formerly called Pit1 or GHF-1, is required for the embryological determination and postnatal secretory function of the GH-, PRL-, and TSH-producing cells in the anterior pituitary. Several mutations in the gene encoding POU1F1 have been described, resulting in a syndrome of combined pituitary hormone deficiency involving these three hormones. Most...
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