Pheochromocytoma in childhood: implication for further diagnostic procedures

We report on our experience with two patients with pheochromocytoma. One patient underwent surgery of pheochromocytoma at the age of 30 y; 18 y later, medullary thyroid carcinoma (MTC) was detected in his son. Subsequently, multiple endocrine neoplasia (MEN) type 2A was diagnosed by genetic examination in both father and son. Further diagnostic procedures also revealed an MTC in the father. The other patient suffered from bifocal pheochromocytoma of the left suprarenal gland. Diagnostic work-up revealed papillary thyroid carcinoma, which was also detected in the mother 8 mo later. Whereas a point mutation in SDHB gene was found in the son, no genetic abnormality was detected in the mother.

Every pheochromocytoma in childhood warrants further diagnostic work-up, including genetic examination. In addition, clinical data of patients suffering from pheochromocytoma and papillary thyroid carcinoma should be collected by an international registry, and a joint effort should be undertaken in order to define possible underlying mutated genes in these patients.