PRIMARY HYPERPARATHYROIDISM-ASSOCIATED POLYOSTOTIC FIBROUS DYSPLASIA - ABSENCE OF MCCUNE-ALBRIGHT SYNDROME MUTATIONS

Several cases of sporadic primary hyperparathyroidism in association w ith fibrous dysplasia of the bone have been reported in the English li terature. Since fibrous dysplasia is a major feature and hyperparathyr oidism is occasionally found in the McCune-Albright syndrome, we hypot hesized that such cases may represent a variant of this syndrome, A 28 -year-old male had primary hyperparathyroidism associated with polyost otic fibrous dysplasia but no other manifestations of the McCune-Albri ght syndrome. Genomic DNA samples from his parathyroid adenoma, dyspla stic bone sample, and peripheral leukocytes were analyzed for the pres ence of activating mutations of the stimulating G protein alpha subuni t gene (gsp). Allele-specific hybridization revealed the presence of n ormal sequences only, coding for arginine and glutamine at codons 201 (exon 8) and 227 (exon 9), respectively. Further, single strand confor mational analysis of a 224 base pair fragment of exon 8 revealed no co nformational aberrations. Furthermore, the sequences of a 164 base pai r fragment of exon 8 and a 170 base pair fragment of exon 9 were norma l, The results strongly suggest that gsp mutation is absent in affecte d and normal tissues in this patient and that the association of hyper parathyroidism and fibrous dysplasia may not represent a variant of th e McCune-Albright syndrome. (C)1997, Editrice Kurtis.