The adrenal glands, located atop the kidneys, normally produce several types of hormones. Tumors of these glands may or may not secrete hormones. It is not known what causes these tumors or why some secrete hormones and others do not. Some of the tumors are benign and confined to the adrenal gland, and others are malignant (cancerous), and can spread to other parts of the body. This study will investigate how adrenal gland tumors develop, why some secrete steroid hormones and others do not, and why some are benign and others malignant.
Patients between 3 and 70 years old with a known or suspected adrenal gland tumor may be eligible for this study. Participants will be hospitalized for 7 to 10 days for various tests and procedures that may include the following:
- Medical history and physical examination, including body measurements, as appropriate. Children and adolescents will have Tanner staging, including examination of the genitals, to determine the extent of sexual maturity.
- 24-hour urine collection to measure hormones in the urine.
- Imaging studies, including magnetic resonance imaging (MRI) of the brain, computed tomography (CT) and other X-ray studies.
- Blood tests to see if the tumor secretes hormones in response to specific stimuli, including exercise, food, and various hormones. The hormones are given through an intravenous catheter, or IV a thin plastic tube inserted into an arm vein. After the stimulus, blood is drawn through the same IV every 30 minutes for up to 3 hours to measure hormone levels. Based on the results of these tests, some patients may have additional blood tests to check hormone response to special foods, an IV salt solution, or other hormones or drugs given either IV or by mouth (in pill form).
- Photographs to document the effects on the body of abnormal hormone secretion from the adrenal tumor.
- Small samples of blood and tumor tissue for research and DNA (genetic) analysis.
A discussion of treatment options will be based on the results of tests. If surgery to remove the tumor is recommended, the procedure can be done at NIH under this study protocol. If a malignant tumor is found that cannot be treated surgically, chemotherapy or radiation therapy may be recommended. These options are not offered under this protocol, but may be available under a different NIH study (for example, at the National Cancer Institute). Referrals will be made at the patient s request.
Patients who had surgery may be followed at the NIH outpatient clinic for 1 year after surgery. Patients with certain types of tumors may continue to be followed at NIH once a year for up to 5 years.
A registry of study participants will be created to keep records and correlate medical histories with tissues kept at NIH. The registry will also be used to inform participants of research studies they may be interested in. No individuals or organizations outside of NIH will have access to the registry.
| Estimated Enrollment:
| Study Start Date:
||June 23, 2000
The adrenal glands are the major source in the body of the steroid hormones. In normal physiology, the pituitary hormone ACTH regulates the secretion of glucocorticoids, while the secretion of mineralocorticoids such as aldosterone is controlled by the renin-angiotensin system. In addition to these two classes of steroids, the adrenal gland secretes lesser amounts of intermediate metabolites as well as dehydroepiandrosterone (DHEA) and its sulfated product (DHEAS) and androstenedione, testosterone, estrogen, and estrone. Dysregulated secretion of any of these hormones can be caused by sporadic adrenocortical adenomas or carcinomas, with the development of specific clinical syndromes depending on the identity of the hormones secreted. In at least a subset of cortisol-producing adrenocortical neoplasms, the presence of ectopic or abnormal receptors has been described, resulting in the regulation of cortisol and/or aldosterone by non-physiologic stimuli. The present study will serve as a mechanism to investigate individuals with steroid hormone-secreting adrenocortical tumors of all types for the purpose of identifying hereditary, congenital, or acquired defects leading not only to hormone oversecretion, but also to tumor formation. One of the first goals of the study was (until very recently) to examine the prevalence of ectopic receptor expression in cortisol- and/or aldosterone- hormone secreting adrenocortical tumors. This led to the understanding of the ontogeny of these tumors and the development of novel therapeutic strategies (e.g., receptor antagonists) to control hormone oversecretion. We currently use this information for the evaluation and treatment of our patients. An important research goal of the study is to identify novel genetic defects leading to tumors of the adrenal gland. This is done through a set of methods, from sequencing of the collected DNA to analysis of the expression of large sets of genes using gene array/gene chip analysis. This information may help to identify patients who would benefit from more aggressive intervention strategies, especially those with potentially malignant tumors. This study also provides the patient cohort necessary for the establishment of a bank of tissues of varying tumors of the adrenal cortex, which may serve in the future as an experimental resource to test new diagnostic and therapeutic methods. Finally, an important and more recent goal of this study is to investigate the effects of excess aldosterone on renal, cardiac, metabolic, and bone systems in patients with primary hyperaldosteronism, an important subgroup of patients with adrenocortical tumors. Patients with hyperaldosetronism have not been studied with the same rigor as patients with hypercortisolism in the past; this study aims at investigating the relative contribution of hyperaldosteronism in the etiopathogenesis of a number of clinical problems in patients with adrenocortical lesions and hypertension.