Artículos de revistas
High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment
Fecha
2008Registro en:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v.21, n.7, p.673-680, 2008
0334-018X
Autor
ROCHA, Manuela Giuliani Marcondes
MARCHISOTTI, Frederico Guimaraes
OSORIO, Maria Geralda Farah
MARUI, Suemi
CARVALHO, Luciani Renata Silveira
JORGE, Alexander Augusto de Lima
MENDONCA, Berenice Bilharinho
ARNHOLD, Ivo Jorge Prado
Institución
Resumen
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.