Endocrine Abstracts

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...

Subtotal parathyroidectomy (PTX) is considered the surgery of choice for patients with MEN1, because it optimally balances the risk of recurrence/persistence against surgical complications. Notably, MEN1 patients negative at the genetic test (MEN1-negative) seem to exhibit distinct clinical characteristics compared to their mutated counterparts (MEN1-positive). Therefore, we hypothesized that these patients may also have a different surgical outcome. The obje...