ea0070ep102 | Bone and Calcium | ECE2020
Mazoni Laura
, Apicella Matteo
, Borsari Simona
, Banti Chiara
, Michelucci Angela
, Adelaide Caligo Maria
, Cetani Filomena
, Marcocci Claudio
HDR syndrome is a rare condition with an autosomic dominant inheritance, firstly described in 1977. It is due to a mutation of GATA3 gene, a transcription factor expressed in parathyroid, inner ear, kidney, central nervous system and T lymphocytes. The most common manifestation is neurosensorial deaf, secondary to progressive degeneration of coclear cells. Hypoparathyroidism is present in 90% of patients that can be asymptomatic or, sometimes presents with ne...