title: Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations.
abstract: We have identified 56 patients with GH receptor deficiency (Laron syndrome) from two provinces in southern Ecuador, one group of 26 (Loja province) with a 4:1 female predominance and 30 patients from neighboring El Oro province with a normal sex ratio. There were no significant differences between the Loja and El Oro populations in stature (-5.3 to -11.5 standard deviation score), other auxologic measures, or in biochemical measures. GH binding protein, the circulating extracellular domain of the GH receptor, was measured by ligand immunofunction assay and found to be comparably low in children and adults. Levels of insulin-like growth factor (IGF)-I and -II and the GH-dependent IGF binding protein-3 (measured by RIA) were significantly greater, and GH and IGF binding protein-2 levels significantly lower in adults than children. Levels of IGF-I (adults) and IGF binding protein-3 (children and adults) correlated inversely with statural deviation from normal (P < 0.01). School performance was at an exceptionally high level, 41 out of 47 who had attended school being in the top 3 in classes of 15-50 persons.
authors.affiliation: Institute of Endocrinology, Metabolism and Reproduction (IEMIR), Quito, Ecuador.
authors.forename: J
authors.initials: J
authors.lastname: Guevara-Aguirre
authors.forename: A L
authors.initials: AL
authors.lastname: Rosenbloom
authors.forename: P J
authors.initials: PJ
authors.lastname: Fielder
authors.forename: F B
authors.initials: FB
authors.lastname: Diamond
authors.forename: R G
authors.initials: RG
authors.lastname: Rosenfeld
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000097:blood; D002648:Child; D002675:Child, Preschool; D004484:Ecuador; D005260:Female; D013006:Growth Hormone / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018971:Insulin-Like Growth Factor Binding Protein 2; D018969:Insulin-Like Growth Factor Binding Proteins; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D007335:Insulin-Like Growth Factor II / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011986:Receptors, Somatotropin / Q000502:physiology*
chemical_list: D002352:Carrier Proteins; D018971:Insulin-Like Growth Factor Binding Protein 2; D018969:Insulin-Like Growth Factor Binding Proteins; D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D007335:Insulin-Like Growth Factor II; D013006:Growth Hormone; C051815:somatotropin-binding protein