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Protocol Number:
97-CH-0076
- Title:
A Clinical and Genetic Investigation of Pituitary Tumors and Related Hypothalmic Disorders
- Number:
97-CH-0076
- Summary:
There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood. The gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present study serves as a (i) screening/training, and, (ii) a research protocol.
As a screening and training study, this protocol allows our Institute to admit children with tumors of the hypothalamic-pituitary unit to the pediatric endocrine clinics and wards of the NIH Clinical Center for the purposes of
(i) training our fellows and students in the identification of genetic defects associated with pituitary tumor formation, and
(ii) teaching our fellows and students the recognition, management and complications of pituitary tumors
As a research study, this protocol aims at
(i) developing new clinical studies for the recognition and therapy of pituitary tumors; as an example, two new studies have emerged within the context of this protocol: (a) investigation of a new research magnetic resonance imaging (MRI) tool and its usefulness in the identification of pituitary tumors, and (b) investigation of the psychological effects of cortisol secretion in pediatric patients with Cushing disease. Continuation of this protocol will eventually lead to new, separate protocols that will address all aspects of diagnosis of pituitary tumors and their therapy in childhood.
(ii) Identifying the genetic components of pituitary oncogenesis; those will be investigated by (a) studying the inheritance pattern of pituitary tumors in childhood and their possible association with other conditions in the families of the patients, and (ii) collecting tumor tissues and examining their molecular genetics. As with the clinical studies, the present protocol may help generate ideas for future studies on the treatment and clinical follow up of pediatric patients with tumors of the pituitary gland and, thus, lead to the development of better therapeutic regimens for these neoplasms.
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- Sponsoring Institute:
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National Institute of Child Health and Human Development (NICHD)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
A. The following criteria must be met for all, who enter the study:
Age 3-70 years
Evidence for the existence of a tumor of the hypothalamic-pituitary unit, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamo-hypophyseal function.
Patients may withdraw from the study at any time.
B. For family members studied for linkage analysis, the following criteria must be met:
Any age
Member of a kindred suspected of having an inherited form of pituitary neoplasia, as evidenced by results of a patient studied under A (above).
- Special Instructions:
Currently Not Provided
- Keywords:
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Oncogenesis
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Adenoma
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Craniopharyngioma
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Cushing Syndrome
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Homeobox-Containing Genes
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Developmental Defect
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Pituitary Gland
- Recruitment Keyword(s):
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None
- Condition(s):
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Abnormalities
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Craniopharyngioma
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Cushing's Syndrome
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Endocrine Disease
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Pituitary Neoplasm
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Child Health and Human Development
- Contact(s):
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex)
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Carney Complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome2
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Multicolor spectral karyotyping of human chromosomes
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008
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