Familial isolated primary hyperparathyroidism caused by
mutations of the MEN1 gene
Familial isolated primary hyperparathyroidism (FIHP) is
an autosomal dominant disorder that can represent an early stage of either the
multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor
(HPT-JT) syndromes; alternatively, the condition can be caused by an allelic
variant of MEN1 or HRPT2 (hyperparathyroidism 2 gene), or caused
by a distinct entity involving another locus. We have explored these
possibilities in a patient with primary hyperparathyroidism, whose mother had a
history of renal calculi and primary hyperparathyroidism.