Year: 2025
Type: article
Study design: Case Report
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.
Source: Clinical Endocrinology
DOI: 10.1111/cen.70089
Institutions: Barcelona Institute for Global Health, Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Universitat Autònoma de Barcelona, Hospital de Sant Pau, Institut de Recerca Sant Pau, Universitat Pompeu Fabra, Centre for Biomedical Network Research on Rare Diseases, Hospital Del Mar, Municipal Institute for Medical Research, Hospital del Mar Research Institute
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W7117740004