Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

@article{Agarwal2000AdrenocorticotropinDI,
  title={Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.},
  author={Gaurav Agarwal and Vijayalakshmi Bhatia and Stephen Cook and Paul Quinton Thomas},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2000},
  volume={85 12},
  pages={4556-61}
}
Incomplete differentiation of the anterior pituitary (AP) hormone-secreting cells can result in combined pituitary hormone deficiency (CPHD), in which patients display deficiencies in GH and at least one other AP hormone. The majority of familial CPHD cases are due to mutations in the pituitary transcription factor PROP1 (Prophet of Pit1). We have scanned for PROP1 mutations in a large consanguineous Indian CPHD pedigree and identified a novel 13-bp deletion in exon 2 that is predicted to… CONTINUE READING