Prolactinoma, familial

Familial Prolactinoma is a rare endocrine disorder characterized by the development of prolactin-secreting pituitary adenomas within a familial context. Prolactinomas are the most common type of hormone-producing tumor found in the pituitary gland, and when these tumors occur as part of a familial syndrome, it suggests a genetic predisposition to developing these tumors.

Etiology and Genetics

The exact cause of familial prolactinoma is not fully understood, but it is believed to involve genetic mutations that increase the risk of developing pituitary tumors. These mutations can be inherited in an autosomal dominant manner, meaning only one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. One of the genes implicated in familial prolactinoma is the MEN1 gene, which is also associated with Multiple Endocrine Neoplasia Type 1 (MEN1 syndrome), a condition that predisposes individuals to tumors in multiple endocrine glands.

Clinical Presentation

Individuals with familial prolactinoma typically present with symptoms related to excess prolactin in the blood (hyperprolactinemia), such as galactorrhea (abnormal milk production), amenorrhea (absence of menstrual periods), infertility, and sexual dysfunction. In men, symptoms may include decreased libido, erectile dysfunction, and gynecomastia (enlarged breasts). The tumors can also cause symptoms by compressing surrounding structures in the brain, leading to headaches and visual disturbances.

Diagnosis

Diagnosis of familial prolactinoma involves a combination of clinical evaluation, laboratory testing to measure prolactin levels in the blood, and imaging studies such as magnetic resonance imaging (MRI) of the pituitary gland to visualize the tumor. Genetic testing may also be performed to identify mutations associated with familial syndromes that predispose to prolactinomas.

Treatment

Treatment options for familial prolactinoma include medication, surgery, and radiation therapy. Dopamine agonists, such as bromocriptine and cabergoline, are the first-line treatment and work by inhibiting prolactin secretion from the tumor. Surgery may be considered if the tumor does not respond to medication or if it is causing significant compression of surrounding structures. Radiation therapy is typically reserved for cases where medication and surgery are not effective.

Prognosis

The prognosis for individuals with familial prolactinoma is generally good, especially when the condition is diagnosed early and treated effectively. Most people respond well to dopamine agonist therapy, which can reduce tumor size and prolactin levels, alleviating symptoms.

See Also

• Pituitary adenoma
• Hyperprolactinemia
• Multiple Endocrine Neoplasia Type 1

Prolactinoma, familial Resources
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