Idiopathic Juvenile Osteoporosis Diagnosed in Adulthood: The First Documented Case in Georgia

Idiopathic juvenile osteoporosis (IJO) is a rare metabolic bone disorder characterized by bone fragility in otherwise healthy children and adolescents, with typical onset before puberty. To our knowledge, this represents the first documented case of IJO in Georgia, with a delayed diagnosis in adulthood despite a clinical history suggestive of earlier onset. A 24-year-old male with a history of childhood nephrolithiasis and intermittent vitamin D deficiency presented with progressive bone pain, joint crepitus, and worsening mobility. Imaging revealed severe osteopenia and osteoporosis, prompting an extensive metabolic and endocrine evaluation. Laboratory findings were largely unremarkable aside from episodic hypercalciuria, normal parathyroid hormone levels, and fluctuating vitamin D levels. Major secondary causes, including malignancy, hyperparathyroidism, thyroid dysfunction, chronic inflammatory disease, and malabsorption syndromes, were ruled out. A diagnosis of IJO was made by exclusion. The patient was started on calcium and vitamin D supplementation with close monitoring. This case highlights the diagnostic challenges of IJO when presentation extends into adulthood and underscores the importance of considering this condition in young adults with unexplained bone fragility, particularly in regions where it remains undocumented.