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Clinical Research

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Pituitary Tumors

Articles

Documents

Protocol 97CH0076:

  • Consent Form 1 - Consent to participate in a clinical researsh study, adult patient or parent for minor patient. Linkage Study and Tumor Tissue Collection
  • Consent Form 2 - Consent to participate in a clinical researsh study, adult patient or parent for minor patient.
  • Assent Form 1 - Minor patient's assent to participate in a clinical researsh study. Linkage Study and Tumor Tissue Collection
  • Assent Form 2 - Minor patient's assent to participate in a clinical researsh study.

Studies on multiple adrenal tumors, Allgrove syndrome, Carney triad, familial hyperaldosteronism and other genetic endocrine conditions

Articles

Clinical Research Studies

Adrenal Tumors

What are the adrenal glands?

These are the sole source in the body responsible for secreting three different classes of hormones: glucocorticoids, mineraolocorticoids, and catecholamines. They also are an important source of sex steroids, especially before puberty. Glucocorticoids (in humans cortisol, although different hormones in rodents) are necessary for maintenance of a variety of metabolic processes, including maintenance of blood sugar as well as regulating inflammatory states. Mineralocorticoids (aldosterone) are needed for the body to properly regulate salt and water balance. These hormones, as well as the sex steroids produced by the adrenals, are all manufactured in the outer portion of the adrenal gland, known as the adrenal cortex. Tumors of the adrenal gland that secrete these substances are therefore known as "adrenocortical tumors".

The remaining hormones secreted by the adrenal gland are the catecholamines, comprised mainly of epinephrine and norepinephrine (also known as adrenaline and noradrenaline). These hormones give rise to the "fight or flight" response, and are secreted by the inner portion of the adrenal gland, known as the adrenal medulla. Tumors of this portion of the gland are most commonly known as pheochromocytomas.

Types of adrenal tumors

  • Cortisol producing adenomas (account for about 60% of hormone-secreting adrenocortical tumors)
  • Aldosteronomas (account for about another 30% of tumors)

Pheochromocytoma

Please call Dr. Pacak: pheopara.nichd.nih.gov

Other hormone secreting tumors

  • Benign vs. Malignant Adrenal Tumors
  • Adrenal incidentalomas

Due to the increasing frequency of the use of advanced body imaging techniques (for example, CT, MRI), nodules on the adrenal glands are being detected with ever increasing frequency. Recent retrospective studies estimate that between 1-5% of all adults have a lesion on the adrenal gland that can be detected by imaging (REF). The frequency of these lesions appears to increase roughly parallel with age, such that the older a person is, the more likely he is to have a nodule on the adrenal gland. Because the large majority of these are detected incidentally (that is, during a scan done for other reasons--such as abdominal pain), these lesions have been termed "incidentalomas".

Important!! The information on these pages is provided out of interest and to try to disseminate information about our work amd the particular rare diseases in which we are interested. It is not meant to be encyclopedic or authoritative. Any serious medical concerns should be discussed with appropriate physicans in a timely manner.

Work of Segen on Phosphodieserases

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia (PDF)

Clinical and Molecular Analysis of ACTH-Independent Steroid Hormone Production in Adrenocortical Tissue

Documents

Other genetic syndromes:
Brancio-otic dysplasia, collagen defects, skeletal dysplasias, growth abnormalities, acromegaloidism

Articles

How to Refer a Patient or Send a Sample for Genetic Studies

To refer a patient to one of our studies:

  • For pediatric endocrine patients with doagnosis other than Cushing syndrome or a pitutary tumor: Call Meg Keil at 301-4353391 Or e-mail at: keilm@mail.nih.gov.
  • For patients with Cushing syndrome or with any pituitary tumor: call Eileen Lang at 301-496-0862 or email at: el192u@nih.gov or Meg Keil at the numbers above.
  • For patients with any genetic condition use the contact people above or Dr. Margarita Raygada at 301-451-8822 or by email at margaritar@mail.nih.gov.

To Send a Blood Sample for Genetic Testing:

Instructions for Sending a Blood Sample

Alternatively Dr. Stratakis can be reached at:

Address for the laboratory (Rm 1-3216, CRC, tel 301-4021998):

Building 10, CRC, Rm 1-3330 (East Laboratories), MSC 1103
Bethesda, MD 20892, Tel. 301-496-6683, Fax 301-402-0574
stratakc@mail.nih.gov
segen.nichd.nih.gov

Address for the office and Training Program:

Building 10, Room 9D42, MSC 1830,
Bethesda , MD 20892 , tel. 301-496-6683, fax. 301-480-0378
stratakc@mail.nih.gov
pe.nichd.nih.gov