Hypopituitarism, the deficiency of one or more pituitary hormones, causes stunted
growth and severe health problems. Understanding the etiology of pituitary
hormone deficiencies is important for anticipation of clinical problems, for genetic
counselling and for possible prevention. This doctoral thesis describes the results of
studies performed in patients with isolated growth hormone deficiency (IGHD) and
combined pituitary hormone deficiencies (CPHD), in order to explore the genetic and
non-genetic causes of pituitary hormone deficiencies and the phenotypic variability among patients
