SDHD-Related Chromaffin Tumours: Disease Localisation to Genetic Dysfunction

U Srirangalingam, B Khoo, M Matson, R Carpenter, R Reznek, Eamonn Maher, SL Chew, WM Drake

    Research output: Contribution to journalArticle

    4 Citations (Scopus)

    Abstract

    Background/Aims: To describe the management of a subject with multiple chromaffin tumours found to have a novel succinate dehydrogenase D (SDHD) mutation. Case: A 15-year-old boy with marked hypertension was found to have elevated urinary catecholamines and initial imaging thought to represent bilateral adrenal phaeochromocytomas. An adrenal venous catheter was required to clarify a right adrenal phaeochromocytoma and a left abdominal paraganglioma, distinct from the left adrenal gland. Excision of these tumours, with preservation of the left adrenal gland, provided a cure for this subject without the need for lifelong steroid replacement. Genetic analysis revealed a novel SDHD mutation (c. 169 + 1 G>A) which was shown to result in loss of the 5' splice site and exclusion of exon 2 during splicing. This suggests the likely pathogenicity of this mutation. Disease surveillance in this subject and genetic screening of first degree relatives is ongoing. Conclusions: Genetic testing should be considered in all subjects presenting with a chromaffin tumour. In certain circumstances an adrenal venous sampling catheter for catecholamines may clarify diagnostic uncertainty. The complex management issues raised in the care of these subjects requires the involvement of a multidisciplinary team with the relevant expertise. Copyright (C) 2010 S. Karger AG, Basel
    Original languageEnglish
    Pages (from-to)135-139
    Number of pages5
    JournalHormone research in paediatrics
    Volume73
    Issue number2
    DOIs
    Publication statusPublished - 1 Jan 2010

    Keywords

    • Succinate dehydrogenase D
    • Paraganglioma
    • Phaeochromocytoma
    • Adrenal venous sampling catheter
    • Alternative splicing

    Fingerprint

    Dive into the research topics of 'SDHD-Related Chromaffin Tumours: Disease Localisation to Genetic Dysfunction'. Together they form a unique fingerprint.

    Cite this