title: High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.
abstract: Data were retrospectively collected from 69 Brazilian patients (45 boys) with growth hormone deficiency (GHD) who received exogenous growth hormone (GH) for a median duration of 4 years (range 1-13 years). Forty-two patients had multiple pituitary hormone deficiencies and 27 had isolated GHD. Peak GH was < 7 ng/ml (IRMA) or < 3.2 ng/ml (IFMA) after two stimulation tests. Therapy was started at median age of 10.0 years (range 2.2-21.6 years), bone age of 5.8 years (0.5-13.5 years) and height standard deviation score -4.4 (range -9.3 to -1.6). MRI revealed pituitary abnormalities in 87% of patients. Homozygous mutations in PROP-1, GHRH-R, GH-1 or HESX-1 genes were found in 12 patients. Mean height velocities were 3.3 pretreatment and 10.3, 7.8, 7.4 and 6.4 cm/yr, respectively, during 1-4 years of treatment with GH. In conclusion, the high prevalence (96%) of genetic and/or pituitary abnormalities probably reflects the stringent diagnostic criteria used, and GH replacement resulted in significant catch-up growth.
authors.affiliation: Faculdade de Medicina da Universidade de São Paulo, Brazil.
authors.forename: Manuela Giuliani Marcondes
authors.initials: MG
authors.lastname: Rocha
authors.forename: Frederico Guimarães
authors.initials: FG
authors.lastname: Marchisotti
authors.forename: Maria Geralda Farah
authors.initials: MG
authors.lastname: Osório
authors.forename: Suemi
authors.initials: S
authors.lastname: Marui
authors.forename: Luciani Renata Silveira
authors.initials: LR
authors.lastname: Carvalho
authors.forename: Alexander Augusto de Lima
authors.initials: AA
authors.lastname: Jorge
authors.forename: Berenice Bilharinho
authors.initials: BB
authors.lastname: Mendonca
authors.forename: Ivo Jorge Prado
authors.initials: IJ
authors.lastname: Arnhold
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D019382:Human Growth Hormone / Q000235:genetics* / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000473:pathology*; D011627:Puberty; D011994:Recombinant Proteins / Q000627:therapeutic use; D012189:Retrospective Studies; D012741:Sexual Maturation
chemical_list: D011994:Recombinant Proteins; D019382:Human Growth Hormone; D004247:DNA