Evidence map›Paper›PMID 40838687›Full record

ArticleClinical endocrinology2025

Biochemical Diagnosis of Phaeochromocytoma and Paraganglioma in Children and Adolescents: A Retrospective Cohort Study.

Kristin Potthoff, Tamara Prodanov, Lara M Knigge, Angela Hübner, Stefan Bornstein, Jacques Lenders, Karel Pacak, Graeme Eisenhofer, Christina Pamporaki

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In one paragraph

Article in Clinical endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Kristin PotthoffDepartment of Medicine ΙΙI, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.ORCID https://orcid.org/0009-0002-4053-1714
Tamara ProdanovNational Institutes of Health (NIH), Bethesda, USA.
Lara M KniggeDepartment of Medicine ΙΙI, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.
Angela HübnerDepartment of Paediatrics, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.
Stefan BornsteinDepartment of Medicine ΙΙI, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.
Jacques LendersDepartment of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Karel PacakNational Institutes of Health (NIH), Bethesda, USA.
Graeme EisenhoferDepartment of Medicine ΙΙI, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.ORCID https://orcid.org/0000-0002-8601-9903
Christina PamporakiDepartment of Medicine ΙΙI, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany.ORCID https://orcid.org/0000-0003-0772-1604

Funding

This study was supported by the Deutsche Forschungsgemeinschaft (314061271-TRR/CRC 205- ½; to Christina Pamporaki, Angela Hübner, Stefan Bornstein, and Graeme Eisenhofer), by the P.R.I.S.-Programm "Mehr Zeit für Wissenschaft," of the Medical Faculty, TU Dresden (Kristin Potthoff and Christina Pamporaki), by the Habilitationsförderung für Frauen of the Medical Faculty, TU Dresden to Christina Pamporaki, and by the National Institutes of Health (to Tamara Prodanov and Kristin Potthoff).
6 · The paper itself

Abstract

introductionCurrently, it is unclear whether plasma free or 24-h urinary fractionated metanephrines are preferable for diagnosis of phaeochromocytoma/paraganglioma (PPGL) in children.

objectivesTo investigate whether measurements of plasma free and 24-h urinary fractionated metanephrines are reliable tests for screening for PPGL in children.

methodsThis retrospective study included a cohort of 138 paediatric patients (5 to 18 years), 64 with and 74 without PPGL. Data included sex, age, plasma concentrations of free metanephrines, and genetic test results. For a subset of 89 children tested for PPGL, concentrations of 24-h urinary fractionated metanephrines were also available. For patients with PPGL, data also included tumour location, size, catecholamine tumour phenotype, and presence of recurrent and/or metastatic disease.

resultsAmong children with PPGL, results of plasma metanephrines showed larger fold increases of normetanephrine above the upper cut-off compared to the urinary metabolites (9.5-fold vs 7.1-fold, p < 0.001). Plasma metanephrines showed a diagnostic sensitivity of 92% and specificity of 96%, whereas for urinary metanephrines sensitivity and specificity of 92% and 91% respectively. Sub-analysis of intra-individual temporal measurements of metabolites showed that subsequent increases of plasma normetanephrine may be associated with early-stage development of a noradrenergic PPGL.

conclusionsPlasma free and 24-h urinary fractionated metanephrines are both reliable screening tests for PPGL in children and adolescents. The plasma panel may be useful for early detection of noradrenergic PPGL relevant for children tested within surveillance programs due to hereditary risk of noradrenergic tumours.

Indexed as

Adrenal Gland NeoplasmsParagangliomaPheochromocytomaAdolescentChildChild, PreschoolFemaleHumansMaleMetanephrineNormetanephrineRetrospective StudiesMetanephrineNormetanephrinechildrendiagnostic performancemetanephrinenormetanephrineparagangliomaphaeochromocytoma

Identifiers

PMID40838687
PMCPMC12583316

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.