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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.
Clinical Endocrinology
|December 31, 2025
Summary
Growth hormone (GH) therapy shows positive results for patients with 5q35 duplication syndrome. This case study adds evidence for GH treatment effectiveness in this rare genetic disorder.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- 5q35 duplication syndrome is an ultra-rare genetic disorder.
- Previous research indicated a positive growth hormone (GH) response in specific 5q35 duplications.
- Clinical trials are challenging due to the low prevalence of this condition.
Keywords:
5q35 duplicationNSD1growth hormone therapypediatric endocrinologyreversed Sotos syndromeshort statureMore Related Videos
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