Abstract
Pituitary development is governed by a series of transcriptional factors that firstly orchestrate morphogenesis of brain mid-line structures, optic nerves, eyes and pituitary. Subsequently, five specialized cell lines differentiate to produce growth hormone, TSH, ACTH, FSH/LH and prolactin over the life-span.
About 25% of patients with multiple pituitary hormone deficiency have a recognizable genetic cause - predominantly a PROP1 or POU1F1 gene defects that encode transcriptional factors PROP1 and POU1F1. Whereas in most hypopituitary patients genetic testing does not substantially contribute to clinical diagnosis, in a PROP1 defect may bring significant information.
These patients may suffer from a benign tumor-like pituitary mass that retreats spontaneously. Genetic diagnosis may avoid an unnecessary neurosurgical intervention.
In addition, multiple PROP1-deficient patients suffer from a gradual decline of ACTH secretion. Therefore, a prospective follow-up of pituitary functions may prevent serious complications resulting from unrecognized central adrenal insufficiency.