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AIP-Related Familial Isolated Pituitary Adenomas.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Jun 21.

Author information

1
Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom
2
Clinical Genetics Unit, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom

Excerpt

CLINICAL CHARACTERISTICS:

AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).

DIAGNOSIS/TESTING:

The diagnosis of AIP-related FIPA relies on identification of characteristic pituitary adenomas based on hormone secretion, pituitary MRI, and histologic findings, and identification of a heterozygous AIP pathogenic variant in an affected family member.

MANAGEMENT:

Treatment of manifestations: Pituitary adenomas identified in those with AIP-related FIPA are treated in the same manner as pituitary adenomas of unknown cause: they can be treated by surgery, medical therapy (somatostatin analogs, growth hormone receptor antagonists, and dopamine agonists), and/or radiotherapy. Although surgery is usually performed in persons with AIP-related FIPA, it often does not fully control the tumor; thus, medical therapy and radiotherapy following surgery may be required to control hormone output and tumor growth. Surveillance: Persons with AIP-related FIPA who have had a pituitary adenoma need to be followed for both recurrence of a treated adenoma and development of new adenomas. No specific guidelines exist; the authors' recommendations are: Yearly clinical assessment and pituitary function tests (IGF-1, spot GH, prolactin, LH/FSH, estradiol/testosterone, TSH, fT4, and morning cortisol); Dynamic testing to evaluate for hormone excess or deficiency (e.g., glucose tolerance test, insulin tolerance test) as needed; and Follow-up pituitary MRI, with frequency depending on clinical status, previous extent of the tumor, and treatment modality. Clinical monitoring of secondary complications of the tumor and/or its treatment (e.g., diabetes mellitus, hypertension, osteoarthritis, hypogonadism, osteoporosis) are necessary. Evaluation of relatives at risk: Family members at risk for AIP-related FIPA warrant molecular genetic testing for the family-specific pathogenic variant to identify those who harbor the variant and thus require surveillance over time for pituitary adenomas.

GENETIC COUNSELING:

AIP-related FIPA is inherited in an autosomal dominant manner. Each child of an individual with AIP-related FIPA has a 50% chance of inheriting the pathogenic variant. Prenatal diagnosis for pregnancies at increased risk is possible if the AIP pathogenic variant of an affected family member has been identified; however, requests for prenatal testing for conditions which (like FIPA) do not affect intellect and have some treatment available are rare. Furthermore, as AIP-related FIPA demonstrates reduced penetrance, the finding of a AIP pathogenic variant prenatally does not allow accurate prediction of whether a tumor will develop, the adenoma type, age of onset, prognosis, availability of and/or outcome of treatment.

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