Characteristics of pheochromocytoma in a 4- to 20-year-old population

MARTA BARONTINI; GLORIA LEVIN; GABRIELA SANSO

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES.

New York Academy of Sciences

Año: 2006 vol. 1073 p. 30 - 37

0077-8923

ABSTRACT: Hypertension in children and adolescents has become a major health problem recently recognized, and in a significant number of patients it is due to an endocrine tumor. The aim of this study was to establish the characteristics of pheochromocytoma (pheo) in a population of 58 patients between 4-20 years of age studied at our Center. They represented a 23% of the total population of 255 pheo patients studied. In the younger group (under 20-year-old), there was a marked predominance of severe sustained hypertension (93%), only 7% presented paroxysmal hypertension and none of them was normotensive. The youngsters studied showed a higher incidence of bilateral adrenal pheo (34%) and extra-adrenal pheo (22%). Malignancy was found in 12% of these patients. In addition, the incidence of familial pheo was elevated in these patients (39%). Surprisingly, in contrast with the adult population where the most frequent familial pheos were MEN2 A (15%), the younger population showed a higher predominance of VHL (28%) and lower incidence of MEN2 A, MEN2 B, neurofibromatosis) and SDHB. In the VHL group, only 2 patients belonging to one family, showed the R167W mutation, while the others showed novel mutations in conserved amino acids. It may be speculated that the high incidence of VHL in youngsters may account for the biochemical and clinical features they usually present.