Objective: The objective of this study is to present the clinical findings and outcome of a large cohort of pregnant women with pheochromocytoma (PHEO) with the aim to contribute to the better recognition, detection and management of pregnancy-related PHEO in the population of pregnant patients with hypertension.
Methods: This is a longitudinal follow-up of a single cohort of 15 patients aged 19–40 years with PHEO associated with pregnancy. Urinary catecholamines and vanillylmandelic acid (VMA) were analysed. Ret proto-oncogene, SDHB and VHL mutations were determined in germline DNA from seven women using PCR followed by direct sequencing.
Results: During pregnancy, all women presented typical features of catecholamines excess. Nevertheless, biochemical diagnosis was performed only in four out of 15 cases during pregnancy and postpartum in the remaining 11. Paroxysmal hypertension was the predominant pattern. Urinary catecholamines and/or VMA were increased in all patients. Tumours were adrenal in 13 patients and extraadrenal in two. Mutations in the Ret proto-oncogene were found in four patients, in the VHL gene in one and in the SDHB gene in one. Antihypertensive treatment resulted in effective control of blood pressure and all women survived. In the group of women diagnosed postpartum, one foetus demised. Newborns from mothers receiving adequate treatment survived. One woman left the hospital after caesarean section but before PHEO surgery became pregnant again and this gestation ended with maternal-foetal dead.
Conclusion: A high index of suspicion in all pregnant women presenting hypertension mainly paroxystic during any gestational phase and/or a history of familial PHEO are the keys to disclose this important diagnosis.
aCentro de Investigaciones Endocrinológicas Dr César Bergadá, Hospital de Niños R. Gutiérrez
bDivisión de Endocrinología del Hospital de Clínicas José de San Martín. Universidad de Buenos Aires, Buenos Aires, Argentina
Correspondence to Marta Barontini, MD, PhD, Centro de Investigaciones Endocrinológicas Dr César Bergadá, Hospital de Niños Ricardo Gutiérrez, Gallo 1360, C.P. 1425, Buenos Aires, Argentina. Tel: +54 11 49635931 x109; fax: +54 11 49635930; e-mail: firstname.lastname@example.org
Abbreviations: CT, computed tomography; HPLC-ED, high performance liquid chromatography with electrochemical detection; MEN, multiple endocrine neoplasia; MIBG, metaiodobenzylguanidine; PGL, paraganglioma; PHEO, pheochromocytoma; SDHB, succinate dehydrogenase B; VHL, von Hippel Lindau; VMA, vanillylmandelic acid
Received 2 October, 2013
Revised 19 March, 2014
Accepted 19 March, 2014