Germ-line MEN1 gene analysis can distinguish heritable from nonheritable parathyroid tumors, and MEN1 gene evaluation of patients with apparently sporadic parathyroid tumor is recommended before parathyroid surgery. Endokrynologii i Chorob Mlodziezy Akademii Medycznej w Lublinie. She had not been properly diagnosed. The first diagnostic investigation of calcium and phosphate balance was provided only when multifocal osteolysis of tibias, hip and metacarpal bones was detected and biopsy of the mentioned osteolytic lesions was done. Clinical diagnosis was verified by histologic findings.
Radiograms show evident improvement of bone tissue structure.
The recent identification of the MEN1 gene has opened the door to a much deeper understanding of this syndrome. Germline MEN1 mutations have been identified in most MEN1 families. They were not found, however, in families with familial pituitary tumors. These recent advances provide for the identification of mutant MEN1 gene carriers who are at a high risk of developing MEN1. The protein encoded by the MEN1 gene has been shown to function in the regulation of JunD-activated transcription but much still remains to be elucidated.