Supplementary Material for: Associations between Pituitary Imaging Abnormalities and Clinical and Biochemical Phenotypes in Children with Congenital Growth Hormone Deficiency: Data from an International Observational Study Deal C. Hasselmann C. Pfäffle R.W. Zimmermann A.G. Quigley C.A. Child C.J. Shavrikova E.P. Cutler Jr. G.B. Blum W.F. 10.6084/m9.figshare.5124982.v1 https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Associations_between_Pituitary_Imaging_Abnormalities_and_Clinical_and_Biochemical_Phenotypes_in_Children_with_Congenital_Growth_Hormone_Deficiency_Data_from_an_International_Observational_Study/5124982 <b><i>Background/Aims:</i></b> 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. <b><i>Methods:</i></b> 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). <b><i>Results:</i></b> 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. <b><i>Conclusion:</i></b> 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. 2013-05-15 00:00:00 Growth hormone deficiency Magnetic resonance imaging Pituitary imaging abnormality Septo-optic dysplasia Ectopic posterior pituitary Multiple pituitary hormone deficiencies Growth hormone therapy