Şıklar Zeynep, Berberoğlu Merih, Kızılcan Çetin Sirmen, Yıldız Melek, Turan Serap, Darcan Şükran, Çetinkaya Semra, Hatipoğlu Nihal, Yıldırım Ruken, Demir Korcan, Vermezoğlu Öznur, Yavaş Abalı Zehra, Özalp Kızılay Deniz, Görkem Erdoğan Nilay, Şiraz Ülkü Gül, Orbak Zerrin, Özgen İlker Tolga, Bideci Aysun, Selver Eklioğlu Beray, Karakılıç Özturan Esin, Tarçın Gürkan, Bereket Abdullah, Darendeliler Feyza
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Türkiye
İstanbul University-İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Türkiye
J Clin Res Pediatr Endocrinol. 2025 Mar 19;17(1):76-86. doi: 10.4274/jcrpe.galenos.2024.2024-7-3. Epub 2024 Oct 8.
Proportional short stature is one of the most important features of Noonan syndrome (NS), and adult height often remains below the third percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that growth hormone (GH) treatment is beneficial in NS, significantly improving height in respect to the results of short and long-term GH treatment.
In this national retrospective cohort study, patients with NS who reached final height from 14 centers were evaluated. Patients were stratified by sex and treatment with or without GH and final height outcomes were compared.
The study included 67 patients with NS, of whom 53 (79.1%) with mean follow-up 5.6 years, received GH treatment. At presentation height standard deviation scores (SDS) of the subjects who were started on GH tended to be shorter than those who did not (-3.26±1.07 vs. -2.53±1.23). In girls mean final height and final height SDS in those using GH vs not using GH were 150.1 cm (-2.17 SDS) vs. 147.4 cm (-2.8 SDS), respectively, and for boys these values were 162.48 cm (-1.81 SDS) vs 157.46 cm (-2.68 SDS), respectively. The Δheight SDS value of the cases was significantly higher in the group receiving GH compared to those not receiving GH (1.36±1.12 SD vs. -0.2±1.24, p<0.001). Cardiac findings remained stable in two patients with hypertrophic cardiomyopathy who received GH treatment. No significant side effects were observed in any patient during follow-up.
In patients with NS who reach their final height, a significant increase in height was observed with GH treatment. An increase of approximately +1.4 SDS may be achieved. GH treatment appears to be safe and effective in NS.
比例性身材矮小是努南综合征（NS）最重要的特征之一，成人身高通常仍低于第三百分位数。尽管NS患者身材矮小的病理生理学尚未完全明确，但已有研究表明，生长激素（GH）治疗对NS有益，就短期和长期GH治疗结果而言，可显著提高身高。
在这项全国性回顾性队列研究中，对来自14个中心达到最终身高的NS患者进行了评估。患者按性别以及是否接受GH治疗进行分层，并比较最终身高结果。
该研究纳入了67例NS患者，其中53例（79.1%）接受了GH治疗，平均随访5.6年。开始接受GH治疗的受试者在就诊时的身高标准差评分（SDS）往往比未接受治疗的受试者更矮（-3.26±1.07 vs. -2.53±1.23）。在女孩中，使用GH与未使用GH的患者的平均最终身高和最终身高SDS分别为150.1 cm（-2.17 SDS）和147.4 cm（-2.8 SDS），在男孩中，这些值分别为162.48 cm（-1.81 SDS）和157.46 cm（-2.68 SDS）。与未接受GH治疗的组相比，接受GH治疗的组患者的身高SDS增加值显著更高（1.36±1.12 SD vs. -0.2±1.24，p<0.001）。两名接受GH治疗的肥厚型心肌病患者的心脏检查结果保持稳定。在随访期间，未观察到任何患者出现明显副作用。
在达到最终身高的NS患者中，观察到GH治疗可显著增加身高。可能实现约+1.4 SDS的增加。GH治疗在NS中似乎是安全有效的。
