Genetic Counseling Program, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA,
Human Development and Health, Faculty of Medicine, University of Southampton and, Southampton, United Kingdom.
Horm Res Paediatr. 2018;90(6):407-413. doi: 10.1159/000496700. Epub 2019 Mar 5.
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.
This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone.
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.
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.
背景/目的：Temple 综合征是一种由母源单亲二体性 14 号染色体（mat UPD14）、14q32 父源性缺失或基因间差异甲基化区（MEG3/DLK1 IG-DMR）父源性低甲基化引起的印迹疾病。Temple 综合征患者存在产前和产后生长受限、身材矮小、肌张力低下、手脚小和性早熟。我们旨在确定生长激素治疗是否能改善 Temple 综合征患者的生长结局。
这是一项回顾性观察性研究，对 14 名 Temple 综合征患者的病历进行了回顾，其中 7 名患者接受了生长激素治疗。
生长激素治疗 1 年后，身高标准差评分（SDS）中位数增加了 1.31 SDS，身高增长速度中位数增加了 5.30 cm/年。
这些结果表明，生长激素治疗可在短期内改善身高 SDS，与根据胎龄小的治疗指征治疗的患者的反应相似。我们建议所有身材矮小的 Temple 综合征患者都考虑生长激素治疗。
