Biochemical and Genetic Assessment of GH Insensitivity

HORACIO M. DOMENÉ

Montevideo

Congreso; XXIII Reunión Anual de la Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP); 2012

Sociedad Latinoamericana de Endocrinología Pediátrica

Biochemical and genetic evaluation of GH insensitivity GH resistance vs. GH bioinactive The IGF generation test: fixed low (11 µg/kg.day) or standard (33 µg/kg.day) The dose-escalation IGF-I generation test: 7 days on 0.7, 1.4 and 2.8 mg/m2.day with washout periods of at least 4 weeks. Phenotype – Chemotype – Genotype GHR spectrum of clinical, biochemical and genetic findings STAT5b gene defects: GH insensitivity associated with severe immune disorder IKBKB gene defects: GH insensitivity with immunodeficiency IGF1 gene defects: IUGR, severe post natal growth impairment, mental retardation and deafness, insulin resistance IGFALS gene defects: modest height deficit, severe IGF-I and IGFBP-3 deficiencies, insulin resistance and frequently delayed pubertal development.