Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):111-5. doi: 10.1038/ncpendmet0726.

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.

Author information

1
Department of Hypertension at the Institute of Cardiology, Warsaw, Poland.

Abstract

BACKGROUND:

A 46-year-old man presented with headaches, paroxysmal palpitations, anxiety and hypertension. The patient had undergone surgery for a retroperitoneal tumor at the age of 31 years, when histological examination revealed an extra-adrenal pheochromocytoma. The patient's 68-year-old mother had a history of a carotid body tumor, which had been resected when she was 34 years old. She was diagnosed with a meningioma at 54 years of age and a jugular paraganglioma at 68 years of age.

INVESTIGATIONS:

A 24h urine catecholamine assay was performed. CT imaging of the abdomen and (123)I-labeled metaiodobenzylguanidine scintigraphy revealed a right pheochromocytoma and left adrenal incidentaloma. An inherited neoplasia syndrome was suspected and molecular genetic analyses were performed.

DIAGNOSIS:

Right adrenal pheochromocytoma and left adrenal nonfunctioning incidentaloma, as part of a familial pheochromocytoma-paraganglioma syndrome associated with a germline mutation in SDHC (gene encoding succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa).

MANAGEMENT:

Predictive testing, with genetic counseling. Management included surgical resection of the existing pheochromocytoma. The patient continues to be monitored with MRI scans of the neck, thorax, abdomen and pelvis every 1-2 years and an annual 24h urine collection for the measurement of metanephrines and catecholamines.

PMID:
18212813
DOI:
10.1038/ncpendmet0726
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center