AI Article Synopsis
- Temple syndrome is a genetic disorder linked to issues with chromosome 14, leading to growth restrictions, hypotonia, and precocious puberty in affected individuals.
- A study analyzed the medical records of 14 Temple syndrome patients, half of whom received growth hormone therapy.
- Results showed a significant improvement in growth, with a median increase in height standard deviation score after one year, suggesting that growth hormone could be beneficial for treating short stature in these patients.*
Article Abstract
Background/aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome.
Methods: This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone.
Results: After 1 year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/year.
Conclusions: These results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature.
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| http://dx.doi.org/10.1159/000496700 | DOI Listing |
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