Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report.
J Pediatr Endocrinol Metab
; 34(2): 255-259, 2021 Feb 23.
Article
em En
| MEDLINE
| ID: mdl-33544498
ABSTRACT
OBJECTIVES:
Defects in the IGF-1 receptor gene (IGF1R) induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very rare clinical features in patients with IGF1R defects. CASE PRESENTATION In this study, we report the atypical clinical manifestations of IGF1R defects. Short stature girl born small for gestational age were initially diagnosed with IGHD. No catch-up growth was achieved despite sufficiently elevated IGF-1 levels after recombinant human growth hormone (rhGH) treatment. Single nucleotide polymorphism microarray analysis finally confirmed terminal deletion of 15q26.2q26.3 in the subject.CONCLUSION:
Intrauterine growth retardation, postnatal growth failure, and IGF-1 resistance during rhGH treatment are homologous features exhibited by affected patients, and may be predictive of IGF1R defects.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptor IGF Tipo 1
/
Deleção de Genes
/
Nanismo
/
Obesidade
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2021
Tipo de documento:
Article