Evaluation of pituitary imaging in patients with prop-1 gene mutation

Natalija Tkačenko, Danutė Lašienė¹, Silvija Jakštienė², Algidas Basevičius², Rasa Verkauskienė

Department of Endocrinology, ¹Institute of Endocrinology, ²Department of Radiology, Kaunas University of Medicine, Lithuania

Key words: hypopituitarism; combined pituitary hormone deficiency; growth hormone deficiency; PROP-1 mutation.

Summary. 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.

Correspondence to N. Tkačenko, Department of Endocrinology, Kaunas University of Medicine, Eivenių 2, 50009 Kaunas, Lithuania. E-mail: nataliuke@yahoo.com

Received 20 May 2008, accepted 4 September 2009