Pituitary Adenoma isolated family (Familial isolated pituitary adenoma -FIPA-) - Gen AIP

The familial isolated pituitary adenoma is a hereditary disease characterized by the development of a tumor in the pituitary gland (pituitary) called pituitary adenoma. The pituitary hormones that control important body functions as a tumor appears in this gland releasable excess one or more hormones, although not all tumors are producers gland hormones (nonfunctioning pituitary adenomas). Those who do usually produce some hormones in particular.

Prolactinomas are the most common tumors of familial isolated pituitary adenoma. These tumors secrete prolactin, the hormone that stimulates breast milk production in women. Both women and men can develop prolactinomas, although they are more common in women. In women, these tumors can cause changes in menstrual cycle or difficulty becoming pregnant. Some affected women may secrete breast milk, even if they are not pregnant or nursing. In males, prolactinomas can cause erectile dysfunction or diminished libido. Rarely, males secrete breast milk. Prolactinomas large, can exert pressure on the surrounding tissues, such as the optic nerves, causing problems with vision.

Another type of tumor, somatotropinoma, is also common in this type of family pituitary adenomas. Somatotropinoma releases the growth hormone (somatotropin), which promotes body growth in children or adolescents can cause gigantism, because the long bones of the arms and legs are still growing. In adults, growth of long bones has stopped, but tumors may lead to overgrowth of the hands, feet and face (acromegaly) and other tissues.

Other less frequent tumors in this process include somatolactotropinomas, nonfunctioning pituitary adenomas, secreting tumors corticotropin (causing Cushing 's disease), and the tirotropinomas gonadotropinomas.

In a family with the heritable disease, the affected can develop the same type of tumor (FIPA homogeneous) or different (heterogeneous FIPA). Pituitary tumors usually appear to the non - hereditary sporadic pituitary adenomas earlier age. In general, these are also larger than sporadic pituitary tumors, as Macroadenomas, more than 10 millimeters. These pituitary adenomas family may appear as a manifestation in other inherited conditions such as multiple endocrine neoplasia type 1 and Carney complex. However, in familial isolated pituitary adenoma, only it affected the pituitary gland.

This process is due between 15 and 25% of the cases by mutations in the AIP gene, located on the long arm of chromosome 11 (11q13.3). The function of the protein encoded by this gene is not well understood, but is believed to act as a tumor suppressor protein. AIP probably helps regulate certain cell, such as growth, proliferation, differentiation and cell survival processes.

Mutations in the AIP gene alter the protein and reduce the synthesis of functional protein, adversely affecting the ability of the AIP protein to control growth and division of cells, allowing pituitary cells grow, divide uncontrollably and form a tumor. It is not known why the pituitary gland is affected in isolation. AIP mutations in the gene have also been found in a small percentage of individuals with sporadic Macroadenomas, which appear in people with no history of disease in your family. When caused by mutations of AIP gene, tumors appear at a relatively early, usually before 30 years of age.

This disease is inherited as an autosomal dominant pattern, that is, one copy of the altered gene in each cell is sufficient to express the process; however, only 20 to 30% of individuals with a mutation in the AIP gene develop a pituitary adenoma, so the process is considered incomplete penetrance.

Tests in IVAMI: in IVAMI perform detection of mutations associated with the development of pituitary adenoma family isolated by PCR amplification of complete exons AIP gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).

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Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).