Abstract
A 17 9/12-year-old female with familial diabetes insipidus (FDI) and idiopathic hypoparathyroidism is described. We analyzed the arginine vasopressin-neurophysin II (AVP-NPII) gene in her family, and a novel heterozygous mutation in exon 2 of the AVP-NPII gene was noted in the patient and her mother. This deletion mutation results in a frame shift beginning at codon 70 and a premature termination at codon 80. Only two cases of non-FDI and idiopathic hypoparathyroidism have been reported so far, but there has been no report on the association of FDI and idiopathic hypoparathyroidism. The causes of this association are not known and it is not known whether it is accidental or not.
