Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment

IF 1.6 4区 医学 Q4 CELL BIOLOGY Growth Hormone & Igf Research Pub Date : 2023-08-01 DOI:10.1016/j.ghir.2023.101550
Selmen Wannes , Ikram El Ahmer , Khouloud Rjiba , Nessrine Jemmali , Hamza Haj Abdallah , Rania Bel Haj , Asma Achour , Hassan Bouzidi , Ali Saad , Soumaya Mougou , Bahri Mahjoub
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Abstract

Type 1 Insulin-like Growth Factor Receptor(IGF1R) plays a fundamental role in normal growth and development. Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15.

Subject and method

We tested a high dose of rhGH in a new patient with ring chromosome 15, as confirmed by karyotype and CGH array. We performed a systematic review, and all published r(15) syndrome cases treated by growth hormone(GH) up to April 2023 were searched, and their response to GH therapy was recorded and summarized.

Results

Twelve patients with ring chromosome 15 received GH therapy according to a literature review. We expand the spectrum by the 13th case treated by GH, and we report an impressive improvement in intellectual performance and progressive catch-up growth after 5 and 20 months of follow-up. By introducing our new case in the analysis, the sex ratio was 3:10, and GH therapy was started at the age of 5.5 (3/9.4) (years) for an age of diagnosis of 4.75 (1.3/9.5) (years). The height before GH therapy was −5.1(−5.9/−4.1) SDS. The median duration of treatment was 1.7(0.9/2) (years), with a median height gain of 1(0.3/1.8) SDS and an improvement in growth velocity of 4.1(2.8/5.3) (cm/year).

Conclusion

GH seems to be effective for r(15) syndrome patients with short stature.

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15号环染色体对生长激素治疗的反应:回顾和来自一个可能对神经发育有益的新病例的证据
1型胰岛素样生长因子受体(IGF1R)在正常生长发育中起着重要作用。其破坏通常以严重的宫内和产后生长迟缓、小头畸形和神经发育迟缓为特征。对于IGF1耐药性和IGF1R致病性突变的儿童来说,重组人生长激素治疗的疗效仍然是一个挑战,在携带最严重形式的IGF1R缺陷(环染色体15)的患者中,数据有限。受试者和方法我们在一名新的环染色体15患者中测试了高剂量的rhGH,核型和CGH阵列证实了这一点。我们进行了一项系统综述,检索了截至2023年4月所有已发表的生长激素(GH)治疗的r(15)综合征病例,并记录和总结了他们对GH治疗的反应。结果对12例15号环状染色体患者进行GH治疗。我们在第13例接受GH治疗的病例中扩大了这一范围,我们报告在5个月和20个月的随访后,智力表现和渐进性追赶生长有了显著改善。通过在分析中介绍我们的新病例,性别比为3:10,生长激素治疗在5.5岁(3/9.4)(岁)时开始,诊断年龄为4.75岁(1.3/9.5)(年)。GH治疗前的身高为−5.1(−5.9/−4.1)SDS。中位治疗时间为1.7(0.9/2)(年),中位身高增加1(0.3/1.8)SDS,生长速度改善4.1(2.8/5.3)(cm/年)。
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来源期刊
Growth Hormone & Igf Research
Growth Hormone & Igf Research 医学-内分泌学与代谢
CiteScore
3.30
自引率
0.00%
发文量
38
审稿时长
57 days
期刊介绍: Growth Hormone & IGF Research is a forum for research on the regulation of growth and metabolism in humans, animals, tissues and cells. It publishes articles on all aspects of growth-promoting and growth-inhibiting hormones and factors, with particular emphasis on insulin-like growth factors (IGFs) and growth hormone. This reflects the increasing importance of growth hormone and IGFs in clinical medicine and in the treatment of diseases.
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