Abstract | BACKGROUND/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.
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Authors | Cheri 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 |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 79
Issue 5
Pg. 283-92
( 2013)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 23689058
(Publication Type: Clinical Trial, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2013 S. Karger AG, Basel. |
Chemical References |
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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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