title: Familial growth hormone deficiency associated with MRI abnormalities.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Hamilton
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: S
authors.initials: S
authors.lastname: Blaser
authors.forename: L E
authors.initials: LE
authors.lastname: Cohen
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
authors.forename: D
authors.initials: D
authors.lastname: Daneman
mesh_terms: D002648:Child; D016172:DNA Fingerprinting; D006130:Growth Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D010903:Pituitary Gland, Anterior / Q000000981:diagnostic imaging; D010904:Pituitary Gland, Posterior / Q000000981:diagnostic imaging; D011859:Radiography
chemical_list: D019382:Human Growth Hormone