Pit-1 and hypopituitarism.
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.
Parks
J S
JS
Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Kinoshita
E
E
Pfaffle
R W
RW