Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia

Intern Med. 2001 Feb;40(2):110-3. doi: 10.2169/internalmedicine.40.110.


We describe a 27-year-old woman with familial idiopathic hypoparathyroidism, bilateral sensorineural deafness and right renal aplasia. There was a family history of deafness in her father and two other family members with sensorineural deafness, one of whom had hypoparathyroidism. To our knowledge, there have been four previous reports of idiopathic hypoparathyroidism associated with sensorineural deafness and renal dysplasia. The clinical features were not identical to any of the four previous reports. Although no chromosome abnormalities were present in the patient using standard trypsin G-banding analysis, we speculate that some common genetic mutation caused hypoparathyroidism, sensorineural deafness and renal dysplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Basal Ganglia / pathology
  • Calcinosis / pathology
  • Female
  • Hearing Loss, Bilateral / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hydroxycholecalciferols / therapeutic use
  • Hypocalcemia / drug therapy
  • Hypocalcemia / etiology
  • Hypoparathyroidism / blood
  • Hypoparathyroidism / complications
  • Hypoparathyroidism / genetics*
  • Kidney / abnormalities*
  • Male
  • Pedigree
  • Seizures / etiology


  • Hydroxycholecalciferols
  • alfacalcidol