Abstract
The most common genetically determined cause of multiple pituitary hormone deficiency is PROP-1 gene mutation. PROP-1 is a transcription factor involved in the development of pituitary gland and affects hormonal synthesis of anterior pituitary. The aim of our study was to evaluate radiological aspects of the pituitary region in patients with PROP-1 gene mutation. Pituitary imaging studies were performed in 12 patients with a confirmed PROP-1 gene mutation. Pituitary hyperplasia was found in 5 (42%) and pituitary hypoplasia in 4 (33%) patients. Changes in pituitary size were not associated with the type of PROP-1 gene mutation.
Highlights
PROP-1 is a transcription factor involved in the development of pituitary gland and affects hormonal synthesis of anterior pituitary
Pituitary imaging studies were performed in 12 patients with a confirmed PROP-1 gene mutation
Changes in pituitary size were not associated with the type of PROP-1 gene mutation
Summary
Visiems pacientams rasta PROP-1 geno antrojo egzono mutacija GA 301/302: keturiems pacientams rastas stop-kodonas (S107ter), 11 pacientų – 2bp delecija (DGA301/302), vieno paciento DNR analizėje rastas mutacijos polimorfizmas: dalyje mejozių rasta DGA 301/302 delecija, kitoje dalyje – S107ter (2 lentelė). Devyniems – MRT tyrimai, penkių pacientų tyrimuose rasta adenohipofizės hiperplazija (vienam iki DNR tyrimo įtarta kraniofaringeoma, kitam – hipofizės adenoma), keturiems pacientams rasta mažesnė už normą hipofizė. Hipofizės hiperplazijos vaizdas MRT metu esant PROP-1 geno mutacijai (pažymėta rodykle).
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