Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The discovery of an anterior asymptomatic mediastinal mass with acromegaly creates a dilemma for the clinician. As acromegaly can be due to a pituitary tumor but also to an ectopic production of GHRH, the first diagnostic step consists of finding the etiology of the disease in order to use adequate treatment. This can be complicated by the fact that acromegaly can be associated with other tumors (for instance in MEN-1 disease and Carney Complex) and because chronic GH hypersecretion can stimulate tumor overgrowth and perhaps tumor formation. We describe the case of a 44-year-old acromegalic woman with an anterior mediastinal mass. We present the different diagnoses and a review of the literature.
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PMID:[Clinical case of the month. Anterior mediastinal mass in a patient with acromegaly]. 1497 45

First described in the mid 80's, Carney Complex (CNC) is a rare, dominantly heritable disorder with features overlapping those of McCune-Albright syndrome (MAS) and other multiple endocrine neoplasia (MEN) syndromes like MEN type 1 (MEN 1). Pituitary tumors have been described in a number of patients with CNC; they present with elevated growth hormone (GH) levels and mild hyperprolactinemia. However, most patients with CNC have mild hypersomatomammotropinemia starting in adolescence; this is similar to the situation in MAS patients: in both disorders, pituitary hyperplasia appears to precede tumor development. Familial pituitary tumor syndromes such as CNC provide an important insight into the genetics and molecular pathology of pituitary and other endocrine tumors. Our understanding of these conditions is expanding rapidly due to the identification of the causative genes and the availability of murine disease models. The present report reviews the clinical findings related to pituitary tumor development among patients with CNC and provides an update on murine models of the complex.
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PMID:Pituitary pathology in patients with Carney Complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. 1700 64

Carney complex is a rare autosomal-dominant, familial tumor syndrome first described in the mid 80's. This syndrome is multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous, and neural tumor, in addition to a variety of pigmented lesions of the skin and mucosa. We report the case of a 12-year-old female patient with Carney complex who manifested a high value of serum growth hormone (s-GH), cutaneous angiomyxomas and labial pigmented lesions. Magnetic resonance imaging (MRI) revealed a cystic pituitary tumor. We carried out removal of the pituitary tumor via the transsphenoidal approach. In addition to the pituitary adenoma, pathological examination revealed the presence of a Rathke cleft cyst. So far, approximately 500 cases of this disorder have been described, but there have been no cases similar to our case described here. Therefore, the present case seems to be the first case of Carney Complex complicated with pituitary adenoma and Rathke cleft cyst.
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PMID:[Case of Carney complex complicated with pituitary adenoma and Rathke cleft cyst]. 1854 95