Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge

Early-onset osteoporosis (EOOP) is diagnosed in premenopausal women or men under 50 yr of age when DXA-derived BMD is low (Z-score ≤ -2.0 or T-score ≤ -2.5) in the presence of a fragility fracture or a chronic disease. In young adult patients, it is essential to recognize EOOP and identify the underlying cause, including possible genetic defects, to optimize tailored treatments. Among monogenic causes, WNT1-related osteoporosis has been described in children and adults. We present two adults, a...