Archive for the 'Hyperparathyroidism' Category

15 Jan

Hyperparathyroidism in multiple endocrine neoplasia type II A: The role of minimally invasive

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 […]

14 Jan

Hyperparathyroidism in multiple endocrine neoplasia type II A: Management of PHPT in MEN 2A

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) […]

13 Jan

Hyperparathyroidism in multiple endocrine neoplasia type II A: Clinical characteristics

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 […]

12 Jan

Hyperparathyroidism in multiple endocrine neoplasia type II A: RET, hyperparathyroidism and genetic testing

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 […]

11 Jan

Hyperparathyroidism in multiple endocrine neoplasia type II A

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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