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Familial primary hyperparathyroidism complicated with Wilms' tumor
A Kakinuma1, I Morimoto, Y Nakano
1First Department of Internal Medicine, University of Occupational & Environmental Health, Kitakyushu.
Internal Medicine (Tokyo, Japan)
|February 1, 1994
Summary
This study details a family with primary hyperparathyroidism, including parathyroid adenoma and adenocarcinoma. The genetic link to chromosome 11 and Wilms' tumor is explored.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Familial primary hyperparathyroidism is rare.
- Multiple Endocrine Neoplasia (MEN) syndromes involve inherited endocrine tumors.
- Wilms' tumor and parathyroid disease genes are linked to chromosome 11.
Observation:
- A proband presented with parathyroid adenoma and Wilms' tumor.
- Her older sister had a parathyroid adenoma and cementifying jaw fibroma.
- Her younger sister died of parathyroid adenocarcinoma with metastasis.
Findings:
- The described family exhibits a rare occurrence of primary hyperparathyroidism.
- No clear evidence of Multiple Endocrine Neoplasia (MEN) was found in this pedigree.
- The proband's Wilms' tumor and family's parathyroid conditions suggest a potential link to chromosome 11 abnormalities.
Implications:
- This case highlights a potential genetic predisposition on chromosome 11 for both parathyroid and Wilms' tumors.
- Further research into chromosome 11 mutations may elucidate mechanisms underlying these familial endocrine and neoplastic disorders.