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Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study.

AbstractBACKGROUND/AIMS:
Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). This study examined relationships between MRI findings and clinical/hormonal phenotypes in children with GHD in the observational Genetics and Neuroendocrinology of Short Stature International Study, GeNeSIS.
METHODS:
Clinical presentation, hormonal status and first-year GH response were compared between patients with pituitary imaging abnormalities (n = 1,071), patients with mutations in genes involved in pituitary development/GH secretion (n = 120) and patients with idiopathic GHD (n = 7,039).
RESULTS:
Patients with hypothalamic-pituitary abnormalities had more severe phenotypes than patients with idiopathic GHD. Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). Patients with the triad [ectopic posterior pituitary (EPP), pituitary aplasia/hypoplasia and stalk defects] had a more severe phenotype and better response to GH treatment than patients with isolated abnormalities. The sex ratio was approximately equal for patients with SOD, but there was a significantly higher proportion of males (approximately 70%) in the EPP, pituitary hypoplasia, stalk defects, and triad categories.
CONCLUSION:
This large, international database demonstrates the value of classification of GH-deficient patients by the presence and type of hypothalamic-pituitary imaging abnormalities. This information may assist family counseling and patient management.
AuthorsCheri Deal, Caroline Hasselmann, Roland W Pfäffle, Alan G Zimmermann, Charmian A Quigley, Christopher J Child, Elena P Shavrikova, Gordon B Cutler Jr, Werner F Blum
JournalHormone research in paediatrics (Horm Res Paediatr) Vol. 79 Issue 5 Pg. 283-92 ( 2013) ISSN: 1663-2826 [Electronic] Switzerland
PMID23689058 (Publication Type: Clinical Trial, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 S. Karger AG, Basel.
Chemical References
  • Human Growth Hormone
Topics
  • Child
  • Child, Preschool
  • Dwarfism, Pituitary (blood, diagnostic imaging)
  • Female
  • Human Growth Hormone (blood)
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Pituitary Gland (diagnostic imaging, metabolism)
  • Prospective Studies
  • Radiography
  • Septo-Optic Dysplasia (blood, diagnostic imaging)
  • Sex Factors

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