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New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

2 Jul 2019

Abstract excerpt

Abstract Context Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the VHL gene. Guidelines recommend pheochromocytoma (PHEO) biochemical screening should start at age 5 years. Objective Genotype–phenotype correlations in VHL, focusing on PHEO penetrance in children, were studied. Design We retrospectively evaluated 31 individuals (median age at diagnosis was 26...

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Identifiers

PMID: 31528828
DOI: 10.1210/js.2019-00225

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