RESUMO
Objective: Insulin like growth factors-1 (IGF-1) is essential for normal in utero and postnatal human growth. It mediates its effects through the IGF-1 receptor (IGF1R), a widely expressed cell surface tyrosine kinase receptor. The aim of the study was to analyze pre- and post-natal growth, clinical features and laboratory findings in a small for gestational age (SGA) girl in whom discordant postnatal growth persisted and her appropriate for gestational age (AGA) brother. Methods: A girl born with a low weight and length [-2.3 and -2.4 standard deviation (SD) score (SDS), respectively] but borderline low head circumference (-1.6 SD) presented with a height of -1.7 SDS, in contrast to a normal height twin brother (0.0 SDS). IGF-1 resistance was suspected because of elevated serum IGF-1 levels. Results: Sequencing revealed the presence of a previously described pathogenic heterozygous mutation (p.Glu1050Lys) in the SGA girl which was not present in the parents nor in the AGA twin brother. Conclusion: The pathogenic IGF1R mutation in this girl led to intrauterine growth retardation followed by partial postnatal catch-up growth. Height in mid-childhood was in the lower half of the reference range, but still 1.7 SD shorter than her twin brother.
Assuntos
Insuficiência de Crescimento/patologia , Retardo do Crescimento Fetal/patologia , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Mutação , Receptor IGF Tipo 1/genética , Estatura , Insuficiência de Crescimento/sangue , Insuficiência de Crescimento/genética , Feminino , Retardo do Crescimento Fetal/sangue , Retardo do Crescimento Fetal/genética , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Fator de Crescimento Insulin-Like I/análise , Masculino , Prognóstico , Gêmeos DizigóticosRESUMO
OBJECTIVE: Psychosocial short stature (PSS), is the only known variant of reversible growth hormone deficiency (GHD)-like state. Herein we present three cases of Puerto Rican children with PSS, which will aid the uninitiated to the entity and assist in making the appropriate diagnosis. All of them demonstrated catch up growth and reversible GHD state as determined by increased insulin-like growth factor 1 (IGF-1) production and growth hormone secretion after pharmacologic stimulation. METHODS: Three boys ages 4.5 to 15.5 years were evaluated because of poor growth at the University Pediatric Hospital in San Juan, Puerto Rico. Medical evaluation excluded organic causes for growth failure. Psychosocial evaluation revealed the presence of repeated instances of psychological abuse by caretakers and the subjects demonstrated patterns of bizarre behavior. These findings prompted evaluation toward the possibility of PSS. The three children were removed from their caretakers' homes and placed in foster nurturing environments. RESULTS: Once relocated, the three children were able to demonstrate marked weight gain, growth acceleration, and improved social behavior. These changes were accompanied by biochemical evidence of GH-axis recovery as determined by the augmented insulin-like growth factor 1 levels and GH secretion. They have continued thriving at their foster homes. These results were felt to be compatible with PSS Type 2. CONCLUSION: We conclude that infants and children with growth failure without apparent organic cause, should be suspected of having PSS. Early relocation is critical for a successful outcome.
Assuntos
Insuficiência de Crescimento/etiologia , Hormônio do Crescimento/deficiência , Carência Psicossocial , Adolescente , Estatura , Peso Corporal , Criança , Pré-Escolar , Insuficiência de Crescimento/sangue , Insuficiência de Crescimento/terapia , Crescimento , Hormônio do Crescimento/sangue , Hormônio do Crescimento/metabolismo , Humanos , Fator de Crescimento Insulin-Like I/análise , Masculino , Aumento de PesoRESUMO
OBJECTIVE: Psychosocial short stature (PSS), is the only known variant of reversible growth hormone deficiency (GHD)-like state. Herein we present three cases of Puerto Rican children with PSS, which will aid the uninitiated to the entity and assist in making the appropriate diagnosis. All of them demonstrated catch up growth and reversible GHD state as determined by increased insulin-like growth factor 1 (IGF-1) production and growth hormone secretion after pharmacologic stimulation. METHODS: Three boys ages 4.5 to 15.5 years were evaluated because of poor growth at the University Pediatric Hospital in San Juan, Puerto Rico. Medical evaluation excluded organic causes for growth failure. Psychosocial evaluation revealed the presence of repeated instances of psychological abuse by caretakers and the subjects demonstrated patterns of bizarre behavior. These findings prompted evaluation toward the possibility of PSS. The three children were removed from their caretakers' homes and placed in foster nurturing environments. RESULTS: Once relocated, the three children were able to demonstrate marked weight gain, growth acceleration, and improved social behavior. These changes were accompanied by biochemical evidence of GH-axis recovery as determined by the augmented insulin-like growth factor 1 levels and GH secretion. They have continued thriving at their foster homes. These results were felt to be compatible with PSS Type 2. CONCLUSION: We conclude that infants and children with growth failure without apparent organic cause, should be suspected of having PSS. Early relocation is critical for a successful outcome.