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Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long-Term Follow-Up
Alejandro Cáceres1,2, Gemma Carreras3,4,5, Luis A Pérez-Jurado6,7,8
1Instituto de Salud Global de Barcelona (ISGlobal), Barcelona, Spain.
Abstract:
We report additional evidence supporting growth hormone (GH) therapy in 5q35 duplication syndrome based on a patient case. A recent publication described a positive GH response in patients with NSD1-containing 5q35 duplications. Our case shows a similar favorable outcome, reinforcing previous findings in this ultra-rare disorder, for which clinical trials are not feasible due to low patient numbers. Well-documented individual cases remain valuable for guiding families, clinicians, and healthcare providers in treatment decisions.
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