Short stature due to growth hormone qualitative anomaly (Q106510): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Esta síndrome é caracterizada por retardo do crescimento e baixa estatura (apesar da presença de níveis normais ou ligeiramente elevados de hormônio do crescimento imunorreativo, GH), baixas concentrações do fator de crescimento semelhante a insulina-1 (IGF-1) e um aumento significativo da taxa de crescimento após terapia com GH recombinante. A prevalência é desconhecida mas apenas poucos casos já foram relatados na literatura. A síndrome é causada por várias mutações no gene GH1 (17q22-q24) que resultam em anormalidades estruturais no GH e uma molécula biologicamente inativa. A transmissão é autossômica recessiva.
@@ description / en / description / en @@
+This syndrome is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
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+August 2026Timestamp +2026-08-16T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
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After 0
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++2026-08-16T00:00:00Z
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@@ Property / Collection date: 16 August 2026 / rank @@
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Latest revision as of 13:29, 17 August 2026

This syndrome is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

Language	Label	Description	Also known as
default for all languages	ID_1665498704
English	Short stature due to growth hormone qualitative anomaly	This syndrome is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.