A Clinical and Genetic Investigation of Pituitary Tumors and Related Hypothalmic Disorders
There are a variety of tumors affecting the pituitary gland; 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 patients with
tumors of the hypothalamic-pituitary unit to the 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
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 (only) 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 patients with tumors of the pituitary gland and, thus, lead to the development of better
therapeutic regimens for these neoplasms.
Maya B Lodish, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
United States: Federal Government
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