Short Stature Due To Growth Hormone Qualitative Anomaly

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

GH1, CSHL1

Drugs

Lonapegsomatropin, Long-acting carboxy-terminal peptide (CTP)-modified human growth hormone (hGH-CTP), Long-acting recombinant human Growth Hormone (LAPS-rhGH)

Lonapegsomatropin, Long-acting carboxy-terminal peptide (CTP)-modified human growth hormone (hGH-CTP), Long-acting recombinant human Growth Hormone (LAPS-rhGH), Mecasermin rinfabate ( IPLEX ), Peptidomimetic analog of hexarelin, Somapacitan, Somavartan

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Short stature due to growth hormone qualitative anomaly 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.