Basal cell nevus syndrome: normal responsiveness to parathyroid hormone.
The basal cell nevus syndrome is an autosomal dominant trait which includes among its features jaw cysts, basal cell carcinomas, ectopic calcification and skeletal anomalies. It had been previously reported that such persons have had "resistance" to parathyroid hormone. In the current study, six persons with this syndrome from two families had a normal response to parathyroid hormone as measured by changes in serum calcium and phosphate and urinary excretion of calcium, phosphate and cyclic 3',5'-adenosine monophosphate. These results do not support the previous reports of "resistance" to parathyroid hormone in this syndrome.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001847:Bone Diseases / Q000378:metabolism; D002114:Calcinosis / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D002280:Basal Cell Carcinoma / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000378:metabolism; D000242:Cyclic AMP / Q000652:urine; D003560:Cysts / Q000378:metabolism; D005260:Female; D006801:Humans; D007571:Jaw Diseases / Q000378:metabolism; D008297:Male; D010281:Parathyroid Hormone / Q000008:administration & dosage / Q000494:pharmacology*; D010710:Phosphates / Q000378:metabolism; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
D010281:Parathyroid Hormone; D010710:Phosphates; D003404:Creatinine; D000242:Cyclic AMP; D002118:Calcium