PURPOSE: To describe the MR characteristics by which patients with her
editary isolated growth hormone deficiency (GHD) can be distinguished
from patients with other types of GHD, METHODS: A total of 51 patients
with GHD were examined prospectively with MR imaging. On the basis of
. familial occurrence of GHD and genetic analysis, 10 patients met the
criteria for hereditary deficiency. In each case, the height of the p
ituitary gland, the presence and location of the posterior neurohypoph
ysis, and the completeness of the stalk were recorded, The findings in
the hereditary group were compared with those in the rest of the pati
ents. RESULTS: In all 10 patients with hereditary CHD, the adenohypoph
ysis, the neurohypophysis, and the stalk were normal. Of the other 41
patients, the height of the gland was normal in three (7%), the neuroh
ypophysis was abnormal in all, and the stalk was truncated in all but
two patients (95%). CONCLUSIONS: The subgroup of patients with heredit
ary GHD exhibited an anatomically normal pituitary-hypothalamic region
. This is in contrast to the majority of patients with idiopathic GHD,
MR imaging can contribute to the classification of patients with GHD.