Katsoudas Sokratis, Tsitsekli Evangelia, Pichlinski Ioannis, Techlemetzi Nikolitsa, Polychroni Ioulia, Koumpagioti Despoina, Dimitriadi Filia
Department of General Pediatrics, General Hospital of Nikaia-Piraeus Agios Panteleimon, Nikaia, Greece.
Private Pediatric Endocrinology Practice, Neo Irakleio, Greece.
Hormones (Athens). 2025 Sep 29. doi: 10.1007/s42000-025-00722-7.
To describe the long-term auxological response to recombinant human growth hormone (rhGH) therapy in a patient with genetically confirmed Wolf-Hirschhorn syndrome (WHS) and concurrent growth hormone deficiency (GHD).
A male pediatric patient with genetically confirmed Wolf-Hirschhorn syndrome underwent comprehensive endocrine evaluation. Growth hormone stimulation testing revealed partial GHD. He subsequently received rhGH therapy for 11 years, with follow-up every 6 months including auxological measurements, biochemical assessments, and bone age determination.
Across 11 years of rhGH, height improved from ~ - 4.2 to ~ - 1.3 SDS with normalized height velocity and a prolonged but uneventful pubertal course. No major adverse effects were observed. Muscle tone improvement was also noted with treatment initiation.
To our knowledge, this is the first documented case of a male patient with WHS and confirmed GHD who received long-term rhGH therapy, resulting in marked improvement in growth. These findings underscore the importance of routine endocrine screening for GHD in WHS. Furthermore, rhGH therapy may provide benefits beyond linear growth, potentially improving hypotonia. However, additional studies are needed to substantiate this effect.
描述一名经基因确诊为沃尔夫-赫希霍恩综合征（WHS）且并发生长激素缺乏症（GHD）的患者对重组人生长激素（rhGH）治疗的长期体格发育反应。
一名经基因确诊为沃尔夫-赫希霍恩综合征的男性儿科患者接受了全面的内分泌评估。生长激素刺激试验显示部分生长激素缺乏。随后他接受了11年的rhGH治疗，每6个月进行一次随访，包括体格测量、生化评估和骨龄测定。
在11年的rhGH治疗期间，身高从约-4.2标准差改善至约-1.3标准差，身高增长速度正常化，青春期进程延长但平稳。未观察到重大不良反应。开始治疗后还注意到肌张力有所改善。
据我们所知，这是首例记录在案的患有WHS且确诊为GHD的男性患者接受长期rhGH治疗并实现生长显著改善的病例。这些发现强调了对WHS患者进行GHD常规内分泌筛查的重要性。此外，rhGH治疗可能带来超出线性生长的益处，有可能改善肌张力。然而，需要更多研究来证实这种效果。
