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Condition report · Endocrine

Familial Isolated Pituitary Adenoma (FIPA)

Inherited predisposition to pituitary tumours, mainly caused by variants in AIP or duplications including GPR101. Tumours often secrete growth hormone and can start early, causing gigantism or acromegaly.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Familial isolated pituitary adenoma

Pituitary adenomas occurring in two or more relatives without other endocrine tumour syndromes, including AIP-related disease and X-linked acrogigantism (GPR101).

What a diagnosis changes

Carriers and relatives can be offered IGF-1 testing and pituitary imaging so tumours are found early.

Genes analysed

Also known as

FIPA

Includes 6 related subtypes ↓
  • Cushing disease due to pituitary adenoma
  • growth hormone secreting pituitary adenoma 1
  • pituitary adenoma 3, multiple types
  • pituitary adenoma 5, multiple types
  • pituitary adenoma, growth hormone-secreting, 2
  • prolactin-producing pituitary gland adenoma
MONDO:0017824Orphanet 314777MedGen 436629

AIP-related pituitary adenoma predisposition

Autosomal dominant

A dominantly inherited, incompletely penetrant predisposition to early, often growth hormone-secreting pituitary adenomas.

What a diagnosis changes

Recommended screening of carriers with clinical review, IGF-1 and prolactin tests and MRI.

Also known as

PAP; pituitary adenoma predisposition

MONDO:1060231

Limitations

  • X-linked acrogigantism is caused by a microduplication including GPR101, often present in only some cells (mosaic), so it may not be detected.

Other endocrine conditions

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