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Terapia con hormona del crecimiento en el síndrome de duplicación 5q35: evidencia de un seguimiento a largo plazo

Alejandro Cáceres^1,2, Gemma Carreras^3,4,5, Luis A Pérez-Jurado^6,7,8

¹Instituto de Salud Global de Barcelona (ISGlobal), Barcelona, Spain.

Clinical endocrinology

|December 31, 2025

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.

Palabras clave:

duplicación 5q35 NSD1 terapia con hormona del crecimiento endocrinología pediátrica síndrome de Sotos invertido baja estatura

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