In the adult, expression was observed at low levels only in the pituitary gland. During development, Prop-1 is expressed at the time of pituitary organogenesis. In addition, we mapped Prop-1 to the q arm of pig chromosome two. The Prop-1 gene consists of three exons and two introns and spans 3.8 kilobases of genomic DNA. Analysis of cDNAs revealed that the porcine Prop -1 sequence is similar to the mouse and human proteins within the homeodomain and carboxyl terminus, but the amino terminus is poorly conserved. We have cloned and analyzed the porcine ortholog of Prop -1. Mutations in the Prop-1 gene cause compound pituitary diseases in mouse models and human patients. Prophet of Pit -1 (Prop -1) is a paired class homeodomain transcription factor that is specifically expressed in the pituitary gland.

The mechanisms responsible for delayed loss of hormone production and the occasional overgrowth of the pituitary represent important areas for future research. Imaging of the pituitary may disclose either a small anterior pituitary gland or an intrapituitary mass. Partial deficiency of corticotrophin (ACTH) is a late finding. While most affected individuals fail to enter puberty without sex hormone replacement, some enter puberty but then develop pubertal arrest with a loss of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) responses to GnRH. Deficiency of growth hormone (GH) tends to precede deficiency of thyroid-stimulating hormone (TSH).

Growth failure is usually evident later in childhood. The diagnosis is seldom considered during the first year of life. The physical and hormonal phenotypes of affected individuals are not uniform. Mutations in the PROP1 gene are responsible for a high proportion of cases of multiple or combined anterior pituitary hormone deficiencies in humans.

Leah p sabacan