Pituitary Morphology in Patients with Combined Pituitary Hormone Deficiency Due to PROP1 Gene Mutations

Publication at Faculty of Physical Education and Sport, First Faculty of Medicine, Third Faculty of Medicine |

2005

Abstract

PROP1 gene mutations lead to multiple pituitary hormone deficiency including impaired secretion of growth hormone, TSH, prolactin, FSH/LH and ACTH. Abnormal pituitary morphology is an additional feature raging from pituitary hypoplasia or empty sella to pituitary hyperplasia.

The distribution of findings according to age at first examination among 17 Czech patients with PROP1 mutation supports the hypothesis on pituitary hyperplasia within the first years of life, followed by a spontaneous regression leading to pituitary hypoplasia or empty sella

Keywords

PROP1 growth hormone deficiency multiple pituitary hormone deficiency magnetic resonance imaging empty sella