Enchondroma and Estrogen Levels
Enchondromas themselves do not cause elevated estrogen levels; however, patients with enchondromatosis (multiple enchondromas) have an increased risk of developing juvenile granulosa cell tumors, which are estrogen-secreting ovarian tumors that can lead to elevated estrogen. 1
Direct Relationship Between Enchondroma and Estrogen
- Solitary enchondromas are benign cartilaginous tumors that arise from the medullary cavity of bones and do not produce hormones or cause systemic endocrine effects 1
- Enchondromas express estrogen receptors (both alpha and beta) in approximately 60% of cases, but this represents hormone responsiveness rather than hormone production 2
- The presence of estrogen receptors in enchondroma tissue indicates these tumors may respond to estrogen, but they do not synthesize or secrete estrogen themselves 2
Enchondromatosis and Associated Hormone-Producing Tumors
The critical distinction is that patients with enchondromatosis syndromes (Ollier disease and Maffucci syndrome) face a specific risk of developing tumors that DO produce estrogen:
- Juvenile granulosa cell tumors have been reported in at least 12 cases of patients with Ollier disease or Maffucci syndrome 1
- These ovarian tumors are estrogen-secreting neoplasms that can cause clinically significant hyperestrogenism 1
- Molecular data shows these granulosa cell tumors harbor the same IDH1/IDH2 variants found in the patient's enchondromas, confirming they are part of the same syndrome 1
Clinical Implications
If a patient with enchondroma presents with signs of elevated estrogen (precocious puberty in children, abnormal uterine bleeding in adults), consider:
- Whether the patient has multiple enchondromas (enchondromatosis) rather than a solitary lesion 1
- Screening for juvenile granulosa cell tumor with pelvic imaging and tumor markers if enchondromatosis is present 1
- The enchondroma itself is not the source of estrogen elevation—look for a concurrent estrogen-producing tumor 1
Common Pitfall
Do not attribute elevated estrogen levels directly to an enchondroma. The bone tumor itself does not produce hormones. Only in the context of enchondromatosis syndromes should you consider associated estrogen-secreting tumors as part of the broader cancer predisposition syndrome 1.