HYPOPARATHYROIDISM IN COMBINATION WITH SE NSORNEURAL DEAFNESS

Three children with primary, nonfamilial hypoparathyreoidism presented with high-grade sensorineural deafness, Based on clinical and molecul ar evidence, one could be diagnosed as Kearns-Sayre syndrome. The basi s of the association in the other cases remains unclear, The combinati on of symptoms seems to be more frequent than peviously assumed, affec ting 3 of 9 children treated at our clinic because of primary, nonfami lial hypoparathyreoidism. Genetically determined dysfunction of cochle ar haircell motility and haircell damage as consequence of reduced cal cium concentrations in peri- and endolymph are discussed as pathogenet ic factors of sensorineural deafness in cases of hypoparathyreoidism. Two of the children showed a marked renal dysplasia. Similar familial cases with associated kidney malformations have been reported in the l iteratur, indicating the possibiliy of a common cause for hypoparathyr eoidism, sensorineural deafness and renal dysplasia. Discussion: As a practical consequence of our experience we recommend laboratory invest igations (i. e. parathyreoid hormone) in order to exclude an underlyin g hypoparathyreoidism in patients with sensorineural deafness, Vice ve rsa, an audiogram should be performed in patients with idiopathic hypo parathyreoidism for early recognition and treatment of associated sens orineural deafness.