Familial growth hormone deficiency associated with MRI abnormalities

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

Research output: Contribution to journalArticlepeer-review

53 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)128-132
Number of pages5
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Nov 2 1998
Externally publishedYes


  • Familial
  • Growth hormone deficiency
  • Hypopituitarism
  • MRI

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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