SNP Shot: Genomic Insights

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a disorder marked by excessive activity of the parathyroid glands, a condition known as hyperparathyroidism. These glands, located in the neck, produce a hormone that controls calcium levels in the body. In HPT-JT, hyperparathyroidism throws off the calcium balance, potentially resulting in kidney stones, bone thinning (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

In individuals with HPT-JT, hyperparathyroidism stems from tumors in the parathyroid glands. While usually only one gland is affected, multiple glands can be involved in some cases. These tumors are typically non-cancerous (benign adenomas). However, around 15% of people with HPT-JT develop parathyroid carcinoma, a cancerous tumor. Fibromas, benign tumors of the jaw, may also occur in HPT-JT. Despite the syndrome's name, jaw tumors are present in only 25% to 50% of affected individuals.

Beyond parathyroid and jaw tumors, other benign and cancerous tumors are frequently observed in HPT-JT. Uterine tumors, for instance, are found in approximately 75% of women with the syndrome. Kidney involvement occurs in about 20% of individuals, with benign cysts being the most common finding. However, a rare tumor called Wilms tumor, as well as other types of kidney tumors, have also been reported.

Inheritance:

HPT-JT is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene in each cell is enough to cause the condition.