Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long‐Term Follow‐Up
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.
Authors
- Gemma Carreras (ORCID: https://orcid.org/0000-0002-6718-8381)
- Alejandro Cáceres (ORCID: https://orcid.org/0000-0001-8551-6695)
- Luis Alberto Pérez‐Jurado
Institutions
- Universitat Autònoma de Barcelona (ES)
- Universitat Pompeu Fabra (ES)
- Hospital de Sant Pau (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Hospital Del Mar (ES)
- Barcelona Institute for Global Health (ES)
- Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública (ES)
- Institut de Recerca Sant Pau (ES)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1111/cen.70089
- Primary Topic
- Williams Syndrome Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centres de Recerca de Catalunya
- Generalitat de Catalunya
- Ministerio de Ciencia e Innovación