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Familial growth hormone deficiency associated with MRI abnormalities

✍ Scribed by Hamilton, Jill; Chitayat, David; Blaser, Susan; Cohen, Laurie E.; Phillips, John A.; Daneman, Denis

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 25 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<128::aid-ajmg7>3.0.co;2-c

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✦ Synopsis

Idiopathic growth hormone deficiency is, in most cases, a sporadic condition. In a number of these patients magnetic resonance imaging (MRI) demonstrates a small anterior pituitary, small or absent pituitary stalk, and ectopically located posterior pituitary. These findings have been attributed to a developmental defect, trauma, or ischemia at birth. We report on a case of familial isolated growth hormone deficiency with mother and son demonstrating the MRI findings described above. The son also had a Chiari type I malformation and medial deviation of the 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 pituitary.

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