The role of minimally invasive parathyroidectomy (MIP) in MEN 2A-related PHPT The MIP technique has become the standard of care for sporadic PHPT in institutions with significant experience in this procedure. In PHPT associated with MEN 2A, where uniglan- dular uptake is noted on preoperative imaging, MIP may be considered. Although it is likely that [...]
Patients with MEN 2A should have annual screenings for hy- perparathyroidism by serum calcium and intact PTH measurements. Parathyroidectomy should be considered in all patients with evidence of symptomatic disease. The objectives of parathyroid surgery are to a) obtain and maintain normocal- cemia for the longest time possible, b) avoid iatrogenic hy- poparathyroidism and c) [...]
Because of its hereditary nature, the clinical appearance of hy- perparathyroidism in MEN 2A is rather early in risk subjects, around 35 years old, compared to the average 50 years old of the sporadic form; the onset age in the MEN 1 form is around 25-30 years old. Often, an “incidental” parathyroid tumor is detected [...]
A germ-line RET point mutation has been described in over 92% of MEN 2 families. Therefore, DNA testing for RET mutations has been proposed as a confirmative test in patients with a clinical suspicion of MEN 2 syndrome and as a predictive test in asymptomatic patients who are clinically at risk. The high sensitivity and [...]
Introduction Primary hyperparathyroidism (PHPT) in its hereditary variants represents only about 5% of all PHPT but it assumes several forms, has characteristic associations, and requires special management. Among all syndromes of hereditary PHPT (multiple endocrine neoplasia type 1 and type 2A, familial hypocalciuric hypercalcemia, neonatal severe PHPT, hyperparathyroidism-jaw tumor syndrome, and familial isolated hyperparathyroidism) (Table [...]
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