title: The syndrome of hypoparathyroidism, deafness, and renal anomalies.
abstract: OBJECTIVE
  We review the syndrome of hypoparathyroidism, deafness, and renal anomalies (HDR syndrome).
  
  
  METHODS
  The current understanding and relevant literature pertaining to the background, genetic considerations, clinical features, prognosis, and treatment of HDR syndrome are reviewed.
  
  
  RESULTS
  The combination of hypoparathyroidism, deafness, and renal anomalies constitutes an unusual syndrome associated most commonly with haploinsufficiency in GATA3, which encodes a transcription factor that binds to the (A/T) GATA (A/G) consensus DNA sequence. Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and hearing impairment occurs in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad. We characterize, in tabular form, the individual cases described in the literature and propose a classification scheme based on the presence or absence of renal anomalies. We also include the specific genetic abnormality and renal anomaly associated with each individual case.
  
  
  CONCLUSIONS
  HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.
authors.affiliation: Department of Internal Medicine, St Vincent's Hospital, Worcester, Massachusetts.
authors.forename: Jagriti
authors.initials: J
authors.lastname: Upadhyay
authors.forename: Devin W
authors.initials: DW
authors.lastname: Steenkamp
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
mesh_terms: D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000628:therapy*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics / Q000628:therapy*; D009401:Nephrosis / Q000235:genetics / Q000628:therapy*; D010281:Parathyroid Hormone / Q000097:blood / Q000235:genetics; D011379:Prognosis; D025721:WT1 Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: D050990:GATA3 Transcription Factor; D010281:Parathyroid Hormone; D025721:WT1 Proteins; C583751:WT1 protein, human