Biomaterial Database

Dominant familial syndromes with endocrine hyperfunction: an additional syndrome? 1992

L E Mallette

Medical Service, VA Medical Center, Houston, TX.

At least 8 separate dominant syndromes have been described which have hyperfunctioning endocrine tumors as an important component. Scattered reports in the literature suggest that there may be an additional syndrome, in which extra-adrenal paragangliomas (often multiple), pituitary adenomas, and parathyroid hyperplasia coexist. Of 3 such cases described to date, 2 have included information about the family history, which in each case suggested dominant inheritance. This would presumably be a less common syndrome than the others recognized previously, so that full evaluation of endocrine findings and family history in future cases will be important for developing our understanding of the syndrome.

UI	MeSH Term	Description	Entries
D006965	Hyperplasia	An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.	Hyperplasias
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009377	Multiple Endocrine Neoplasia	A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.	Adenomatosis, Familial Endocrine,Endocrine Neoplasia, Multiple,Multiple Endocrine Neoplasia Syndrome,Neoplasia, Multiple Endocrine,Neoplasms, Multiple Endocrine,Adenomatosis, Multiple Endocrine,Familial Endocrine Adenomatosis,Multiple Endocrine Adenomatosis,Multiple Endocrine Adenopathy,Multiple Endocrine Neoplasia Syndromes,Multiple Endocrine Neoplasms,Adenomatoses, Familial Endocrine,Adenomatoses, Multiple Endocrine,Adenopathies, Multiple Endocrine,Adenopathy, Multiple Endocrine,Endocrine Adenomatoses, Familial,Endocrine Adenomatoses, Multiple,Endocrine Adenomatosis, Familial,Endocrine Adenomatosis, Multiple,Endocrine Adenopathies, Multiple,Endocrine Adenopathy, Multiple,Endocrine Neoplasms, Multiple,Familial Endocrine Adenomatoses,Multiple Endocrine Adenomatoses,Multiple Endocrine Adenopathies
D010235	Paraganglioma	A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)	Paraganglioma, Gangliocytic,Paragangliomata,Gangliocytic Paraganglioma,Gangliocytic Paragangliomas,Paragangliomas,Paragangliomatas
D010280	Parathyroid Glands	Two pairs of small oval-shaped glands located in the front and the base of the NECK and adjacent to the two lobes of THYROID GLAND. They secrete PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.	Gland, Parathyroid,Glands, Parathyroid,Parathyroid Gland
D010911	Pituitary Neoplasms	Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA.	Pituitary Cancer,Cancer of Pituitary,Cancer of the Pituitary,Pituitary Adenoma,Pituitary Carcinoma,Pituitary Tumors,Adenoma, Pituitary,Adenomas, Pituitary,Cancer, Pituitary,Cancers, Pituitary,Carcinoma, Pituitary,Carcinomas, Pituitary,Neoplasm, Pituitary,Neoplasms, Pituitary,Pituitary Adenomas,Pituitary Cancers,Pituitary Carcinomas,Pituitary Neoplasm,Pituitary Tumor,Tumor, Pituitary,Tumors, Pituitary
D005260	Female		Females
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000172	Acromegaly	A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80)	Inappropriate Growth Hormone Secretion Syndrome (Acromegaly),Somatotropin Hypersecretion Syndrome (Acromegaly),Inappropriate GH Secretion Syndrome (Acromegaly),Hypersecretion Syndrome, Somatotropin (Acromegaly),Hypersecretion Syndromes, Somatotropin (Acromegaly),Somatotropin Hypersecretion Syndromes (Acromegaly),Syndrome, Somatotropin Hypersecretion (Acromegaly),Syndromes, Somatotropin Hypersecretion (Acromegaly)