Noonan Syndrome and Osteoporosis: A Comprehensive Case Study and Literature Review

Abstract

Noonan syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK signaling pathway, typically characterized by unique physical features, congenital heart defects, and short stature. Osteoporosis (OP), although uncommon in NS, can significantly impact patients' quality of life. We report the case of a 60s-year-old male with NS who experienced progressive osteoporosis over seven years. Dual-energy X-ray absorptiometry (DEXA) scans revealed a marked decline in bone mineral density (BMD) accompanied by multiple fractures. Despite normal vitamin D and parathyroid hormone intact levels, the patient’s BMD continued to deteriorate, leading to vertebral compression fractures that necessitated surgical intervention. This case highlights the importance of early osteoporosis screening and prompt management in NS patients to prevent severe complications. Further research is warranted to explore the mechanisms underlying bone fragility in NS and to develop targeted therapeutic strategies.