Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

Abstract

FAMILIAL hypoparathyroidism is an unusual condition that can present at any time from early infancy until well into adulthood.1 2 3 4 It can be inherited in an autosomal dominant,3 , 4 autosomal recessive,5 or X-linked recessive6 , 7 pattern. Its presence has been associated with other congenital abnormalities, such as absence of the thymus (DiGeorge's syndrome).8 We recently encountered a patient with long-standing sensorineural deafness who presented with symptoms of thirst and polyuria and was found to have diabetes mellitus. He also had hypocalcemia, subsequently proved to be due to hypoparathyroidism, and a high serum creatinine concentration; further studies revealed small kidneys with a large right-sided . . .