PERSONAL DE APOYO
SCAGLIA Paula Alejandra
artículos
Título:
Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.
Autor/es:
ANA KESELMAN; PAULA A. SCAGLIA; MARÍA SOLEDAD RODRÍGUEZ PRIETO ; MARÍA GABRIELA BALLERINI; MARIA EUGENIA RODRIGUEZ; MARÍA GABRIELA ROPELATO; IGNACIO BERGADA; HÉCTOR G. JASPER; HORACIO M. DOMENÉ
Revista:
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
Editorial:
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Referencias:
Lugar: São Paulo,; Año: 2012 vol. 56 p. 558 - 563
ISSN:
0004-2730
Resumen:
Isolated growth hormone deficiency (IGHD) may result from
deletions/mutations in either GH1 or GHRHR genes. The objective of this
study was to characterize the molecular defect in a girl presenting
IGHD. The patient was born at 41 weeks of gestation from
non-consanguineous parents. Clinical and biochemical evaluation included
anthropometric measurements, evaluation of pituitary function, IGF-I
and IGFBP-3 levels. Molecular characterization was performed by PCR
amplification of GH1 gene and SmaI digestion of two homologous fragments
flanking the gene, using genomic DNA from the patient and her parents
as templates. At 1.8 years of age the patient presented severe growth
retardation (height 61.2 cm, -7.4 SDS), truncal obesity, frontal
bossing, doll face, and acromicria. MRI showed pituitary hypoplasia.
Laboratory findings confirmed IGHD. GH1 gene could not be amplified in
samples from the patient while her parents yielded one fragment of the
expected size. SmaI digestion was consistent with the patient being
compound heterozygous for 6.7 and 7.6 Kb deletions, while her parents
appear to be heterozygous carriers for either the 6.7 or the 7.6 Kb
deletions. We have characterized type IA IGHD caused by two different
GH1 gene deletions, suggesting that this condition should be considered
in severe IGHD, even in non-consanguineous families.