Study of Adrenal Gland Tumors

NCT00005927 | Completed

• 2 other identifiers: 00016000-CH-0160
• Study Type: observational
• Target: 690
• Locations: 1 country
• Sites: 1

Brief Summary

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:

1. 1.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.
2. 2.24-hour urine collection to measure hormones in the urine.
3. 3.Imaging studies, including magnetic resonance imaging (MRI) of the brain, computed tomography (CT) and other X-ray studies.
4. 4.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).
5. 5.Photographs to document the effects on the body of abnormal hormone secretion from the adrenal tumor.
6. 6.Small samples of blood and tumor tissue for research and DNA (genetic) analysis.

Conditions

Adrenal Gland Neoplasm

Keywords

Macronodular Adrenals; Cushing's Syndrome; Adrenal Gland; Natural History

Outcome Measures

Primary Outcomes (1)

• To study the contribution of ectopic/abnormal membrane hormone receptor expression in the adrenal gland to the pathogenesis of primary adrenocortical hormone over-secretion syndromes

  -to define the germline and/or somatic genetic mutations causing ACTH-independent Cushing s syndrome -to define the biochemical functionality of mutations in adrenocortical tumor -to investigate novel therapeutic strategies to control hormone over-secretion of biochemically active adrenal tumors

  This is an ongoing project

Secondary Outcomes (1)

• To investigate the renal, cardiac, metabolic, and bone effects of hyperaldosteronism. To utilize high-density gene array analysis to identify patterns of gene expression that will discriminate between benign and malignant adrenal tumors.

  This is an ongoing project

Study Arms (1)

Hyperaldosteronism and cushing participants

Subjects with Hyperaldosteronism and cushing. Adults, pediatric subjects and family members (DNA collection only for family members).

Eligibility Criteria

• Age: 3 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Research subjects who present with Adrenal adenoma, adrenal carcinoma, Cushing syndrome, virilizing adrenals tumor, feminizing adrenal tumor, massive macronodular adrenocortical disease, ACTH-independent macronodular adrenal hyperplasia

You may qualify if:

• Patients are adults or children with evidence for the existence of a tumor of the adrenal glands, as indicated by previously obtained imaging studies and/or biochemical investigation of hormonal secretion. This condition is meant to include the possibility of individuals with "sub-clinical" hormone secretion syndromes, which may be detectable at the biochemical level even in the absence of frank clinical signs/symptoms.
• All eligible patients are invited to participate in this protocol, regardless of sex, race or ethnic origin. All populations appear at risk for adrenal tumors, and therefore the subject population can include Native Americans, Asian/Pacific Islanders, Caucasian, Hispanic, and Black individuals. Patients will be accepted for evaluation based on referral from clinicians, or may be self-referred, if they can provide evidence supportive of the diagnosis of hormone over-secretion.
• Patients must be willing to return to the NIH for follow-up evaluation.
• Patients may withdraw from the study at any time.

You may not qualify if:

• Children less than 3 years old will be excluded from the protocol because of the limited resources available at the NIH for the care of infants of this age.
• Individuals over the age of 70 years of age will be excluded because of the possibility of comorbidities that may significantly affect appropriate initial work-up and post-operative management. In addition, research data may be compromised by the inability to interpret data collected from patients over the age of 70 years that may be on multiple medications for a variety for reasons.
• Women who are pregnant or nursing will be excluded from the hyperaldosteronism arm of the protocol. Women with adrenal tumors secreting cortisol or other adrenal hormones may benefit clinically from evaluation and treatment of their tumor, and will be considered for enrollment when clinically indicated.
• Individuals whose medical status will not allow them, for safety reasons, to participate in the provocative testing or who have unacceptably high risk for surgical morbidity and mortality will be excluded from the protocol, as they will not be able to participate profitably in the research aspects of this protocol.
• Individuals found to have an known inherited syndrome as the cause for hormone oversecretion will be excluded from participation in this protocol, as the mechanisms of hormone oversecretion and tumorigenesis is likely to be distinct in these individuals. Specific examples of syndromes to may be excluded from this protocol include individuals with Carney Complex, McCune-Albright syndrome, and MEN-1. If inquiries are received from such patients, they will be referred to the appropriate ongoing protocols, if possible.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead
• National Institute on Deafness and Other Communication Disorders (NIDCD): collaborator

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (8)

• Torpy DJ, Stratakis CA, Chrousos GP. Hyper- and hypoaldosteronism. Vitam Horm. 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5.

  PMID: 10232050 BACKGROUND

• Dluhy RG, Lifton RP. Glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 1999 Dec;84(12):4341-4. doi: 10.1210/jcem.84.12.6256. No abstract available.

  PMID: 10599685 BACKGROUND

• Torpy DJ, Gordon RD, Lin JP, Huggard PR, Taymans SE, Stowasser M, Chrousos GP, Stratakis CA. Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. J Clin Endocrinol Metab. 1998 Sep;83(9):3214-8. doi: 10.1210/jcem.83.9.5086.

  PMID: 9745430 BACKGROUND

• Hodes A, Meyer J, Lodish MB, Stratakis CA, Zilbermint M. Mini-review of hair cortisol concentration for evaluation of Cushing syndrome. Expert Rev Endocrinol Metab. 2018 Sep;13(5):225-231. doi: 10.1080/17446651.2018.1517043. Epub 2018 Sep 20.

  PMID: 30234410 DERIVED

• Angelousi A, Fencl F, Faucz FR, Malikova J, Sumnik Z, Lebl J, Stratakis CA. McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue. Hormones (Athens). 2015 Jul-Sep;14(3):447-50. doi: 10.14310/horm.2002.1578.

  PMID: 26188235 DERIVED

• Neychev V, Steinberg SM, Yang L, Mehta A, Nilubol N, Keil MF, Nieman L, Stratakis CA, Kebebew E. Long-Term Outcome of Bilateral Laparoscopic Adrenalectomy Measured by Disease-Specific Questionnaire in a Unique Group of Patients with Cushing's Syndrome. Ann Surg Oncol. 2015 Dec;22 Suppl 3(Suppl 3):S699-706. doi: 10.1245/s10434-015-4605-1. Epub 2015 May 13.

  PMID: 25968622 DERIVED

• Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libe R, Assie G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R, Kebebew E, Bertherat J, Lodish MB, Stratakis CA. Primary Aldosteronism and ARMC5 Variants. J Clin Endocrinol Metab. 2015 Jun;100(6):E900-9. doi: 10.1210/jc.2014-4167. Epub 2015 Mar 30.

  PMID: 25822102 DERIVED

• Keil MF, Graf J, Gokarn N, Stratakis CA. Anthropometric measures and fasting insulin levels in children before and after cure of Cushing syndrome. Clin Nutr. 2012 Jun;31(3):359-63. doi: 10.1016/j.clnu.2011.11.007. Epub 2011 Dec 7.

  PMID: 22154461 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Adrenal Gland Neoplasms; Cushing Syndrome

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Adrenal Gland Diseases; Endocrine System Diseases; Adrenocortical Hyperfunction

Study Officials

• Deborah P Merke, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 28, 2000
• First Posted: June 29, 2000
• Study Start: July 1, 2002
• Last Updated: March 24, 2026

Record last verified: 2025-12-10

Locations

US (1)