Medline ® Abstract for Reference 13
of 'Diagnosis of growth hormone deficiency in children'
Pit-1 and hypopituitarism.
Parks JS, Kinoshita E, Pfaffle RW
Trends Endocrinol Metab. 1993;4(3):81.
The story of Pit-1 and hypopituitarism in humans provides an excellent example of pleiotrophism or multiple phenotypic effects resulting from a single genetic alteration. It shows how defects in this single gene cause the absence o f several pituitary hormones. Three recent articles reviewed here provide examples of different mutations in this homeobox gene encoding a transcriptional activation protein that is vital to the embryologic development, survival, and differentiated function of somatotropes, lactotropes, and thyrotropes.
Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA.