High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.
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.
Rocha
Manuela Giuliani Marcondes
MG
Faculdade de Medicina da Universidade de São Paulo, Brazil.
Marchisotti
Frederico Guimarães
FG
Osório
Maria Geralda Farah
MG
Marui
Suemi
S
Carvalho
Luciani Renata Silveira
LR
Jorge
Alexander Augusto de Lima
AA
Mendonca
Berenice Bilharinho
BB
Arnhold
Ivo Jorge Prado
IJ
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
D011994:Recombinant Proteins; D019382:Human Growth Hormone; D004247:DNA