Snyder-Robinson Syndrome Presenting With Severe Osteoporosis and Fragility Fracture: A Case Report and Literature Review
Year: 2026
Type: article
Study design: Case Report
Abstract: Background/Objective: Snyder-Robinson syndrome (SRS) is an extremely rare X-linked genetic disorder caused by mutations in the spermine synthase (SMS) gene. SMS gene encodes SMS enzyme which is essential for producing spermine, a polyamine that plays a crucial role in various cellular functions like growth and repair. Patients often present with intellectual disability, hypotonia, seizures, scoliosis, and progressive bone fragility. Case report: We report the case of a 22-year-old male who presented with multiple fragility fractures and osteogenesis imperfecta-like features that was ultimately confirmed to have SRS. Discussion: Despite long-term bisphosphonate therapy, the patient developed more fragility fractures and transitioned to anabolic therapy with abaloparatide with stable laboratory parameters and no new interval fractures. Conclusion: This case highlights the endocrine-related manifestations of the syndrome, therapeutic challenges, and the importance of multidisciplinary management in rare metabolic bone disorders.
Source: AACE Endocrinology and Diabetes
Authors: Ana Cristina Macías, Marilyn Arosemena
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7171997874