Hereditary forms of primary hyperparathyroidism

Primary hyperparathyroidism – sporadic and hereditary forms – etiology and pathogenesis

Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association.

Primary hyperparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed in a 22 year old Japanese woman, the second such case to be reported. Albright's hereditary osteodystrophy (AHO) appears to be associated with a larger number of disorders than the well recognized pseudohypoparathyroidism. AHO and pseudo-pseudohypoparathyroidism are essentially identical.

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describ...

Immunologic Differentiation of Primary Hyperparathyroidism from Hyperparathyroidism

A B S T R A C T Serum immunoreactive parathyroid hormone (IPTH) was measured by radioimmunoassay in 54 patients with primary hyperparathyroidism and in 18 consecutive patients with ectopic hyperparathyroidism due to nonparathyroid cancer without apparent skeletal metastasis. Although serum calcium concentration was higher in the group with ectopic hyperparathyroidism, serum IPTH was lower (rank...

Primary Hyperparathyroidism and Pancreatitis: an Uncommon Cause of Pancreatitis