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Published on: January 7, 2016
Wolf-Hirschhorn syndrome with growth hormone deficiency: long-term response to RhGH therapy
Sokratis Katsoudas1,2, Evangelia Tsitsekli3, Ioannis Pichlinski4
1Department of General Pediatrics, General Hospital of Nikaia-Piraeus Agios Panteleimon, Nikaia, Greece. sokrateskatsoudas@gmail.com.
Purpose:
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).
Methods:
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.
Results:
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.
Conclusion:
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.
