FAMILIAL GROWTH-HORMONE DEFICIENCY ASSOCIATED WITH MRI ABNORMALITIES

Idiopathic growth hormone deficiency is, in most cases, a sporadic con dition, In a number of these patients magnetic resonance imaging (MRI) demonstrates a small anterior pituitary, small or absent pituitary st alk, and ectopically located posterior pituitary. These findings have been attributed to a developmental defect, trauma, or ischemia at birt h. We report on a case of familial isolated growth hormone deficiency with mother and son demonstrating the MRI findings described above. Th e son also had a Chiari type I malformation and medial deviation of th e carotid arteries secondary to a narrow skull base. Testing failed to identify a mutation in either the Pit-1 gene or GH gene cluster. This case appears to be an autosomal dominant defect in early development, lending support to the hypothesis that dysgenesis, rather than birth trauma, may cause a small anterior pituitary and ectopic posterior pit uitary. (C) 1998 Wiley-Liss, Inc.