title: [Short stature investigation: clinical, laboratorial and genetic aspects concerning the growth hormone insensitivity (GHI)].
abstract: It is reported in this study the clinical, laboratory and genetic aspects of short stature investigation with emphasis to the diagnostic approach of growth hormone insensitivity (GHI). This patient in case presented typical clinical features of GHI and his laboratory findings at prepubertal age were typical of those observed in GHI patients (low IGF-1 and IGFBP-3 levels, with high basal and stimulated GH levels). However, during the puberty, he presented normal IGFBP-3 and IGF-1 levels that hindered the diagnosis. The molecular study disclosed a mutation in exon 7 of growth hormone receptor gene (S226I). The steps that demonstrated the causative effect of this mutation are shown here, and also a review of Brazilian GHI cases is given and new molecular defects in this field are discussed as well.
authors.affiliation: Laboratório de Hormônios e Genética Molecular- LIM/42, Disciplina de Endocrinologia do Departamento de Clínica Médica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, SP, Brasil. alexj@pq.cnpq.br
authors.forename: Alexander Augusto de Lima
authors.initials: AA
authors.lastname: Jorge
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D019382:Human Growth Hormone / Q000097:blood / Q000235:genetics; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D046150:Laron Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011986:Receptors, Somatotropin / Q000235:genetics
chemical_list: D018972:Insulin-Like Growth Factor Binding Protein 3; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I