Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.


Department of Nuclear Medicine, University Medical Centre Ljubljana, Zaloška 7, 1000, Ljubljana, Slovenia. [Email]


Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD is a rare disease; therefore, it is important to expand the knowledge about incidence and regional distribution of specific mutations. The aim of this paper is to report results of genetic analyses of adult Slovenian patients with CPHD.