Durability of Focused Minimally Invasive Parathyroidectomy in Young Patients with Sporadic Primary Hyperparathyroidism

Oucharek, Jennifer J.; OʼNeill, Christine; Suliburk, James W.; Sywak, Mark; Delbridge, Leigh; Sidhu, Stan

doi:10.1245/s10434-010-1417-1

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…A total of 136 patients were 45 years old or younger at time of operation and were considered young. This age cut-off was used since most patients with FHPT are diagnosed prior to the age of 45 years [5,[17][18][19]. Thirty-four patients declined to participate in genetic analysis.…”

Section: Methodsmentioning

confidence: 99%

Frequent Germ-Line Mutations of the MEN1, CASR, and HRPT2/CDC73 Genes in Young Patients with Clinically Non-familial Primary Hyperparathyroidism

et al. 2011

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Familial primary hyperparathyroidism (FPHPT) may occur due to an underlying germ-line mutation in the MEN1, CASR, or HRPT2/CDC73 genes. The disease may be undiagnosed in the absence of a history suggestive of FHPT. Young PHPT patients (≤45 years of age) are more likely to harbor occult FPHPT. A total of 1,161 (136 were ≤45 years of age) PHPT patients underwent parathyroidectomy from 2001 to 2009. Thirty-four patients declined participation. Sixteen patients were diagnosed in the clinical routine with FPHPT (11 MEN1, four MEN2A, and one HPT-JT) and were not included in the genetic analysis. Eighty-six young (≤45 years of age) patients with clinically non-syndromic PHPT underwent genetic analysis. Sanger sequencing of all coding regions of the MEN1, CASR, and the HRPT2/CDC73 genes was performed. Eight of 86 (9.3%) young patients with clinically non-familial PHPT displayed deleterious germ-line mutations in the susceptibility genes (4 MEN1, 3 CASR, and 1 HRPT2/CDC73). There was one insertion, one deletion, two nonsense, and four missense mutations, all predicted to be highly damaging to protein function and absent in 3,244 control chromosomes. Germ-line mutations in known susceptibility genes within young patients with PHPT, including those diagnosed in the clinical routine, was 24/102 (23.5%; 15 MEN1, four RET, three CASR, and two HRPT2/CDC73). We demonstrate that germ-line inactivating mutations in susceptibility genes are common in young patients with clinically non-familial PHPT. Thus, enhanced use of genetic analysis may be warranted in clinically non-familial young PHPT patients.

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Section: Methodsmentioning

confidence: 99%