McCune-Albright syndrome1

GNAS2

Equal

Variable (~30% diagnosed age 16 yrs)

~20%3

GH-secreting pituitary adenoma or mixed GH- prolactin-secreting pituitary adenoma /or hyperplasia of GH- prolactin-secreting pituitary cells

Polyostotic fibrous dysplasia, caf au lait spots, precocious puberty, other manifestations Multiple endocrine neoplasia type 11

MEN1

Female4

Typically adult-onset; gigantism is rare

2%-5%

GH-secreting pituitary adenoma, mixed GH- prolactin-secreting pituitary adenoma; pituitary hyperplasia secondary to a GHRH-secreting neuroendocrine tumor; other pituitary adenoma subtypes can occur: prolactinoma, NFPA, corticotropinoma.

Primary hyperparathyroidism, pancreatic neuroendocrine tumors, other manifestations

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Carney complex1

PRKAR1A 5

Equal

Typically adult-onset, but gigantism can occur

~10%6

GH-secreting pituitary adenoma or mixed GH- prolactin-secreting pituitary adenoma /or hyperplasia of GH- prolactin-secreting pituitary cells; corticotropinomas described in 2 persons7

Skin hyperpigmentation, myxomas, PPNAD, other manifestations AIP-related familial isolated pituitary adenoma8

AIP

Male

Typically 2nd decade of life

~80%

GH- or mixed GH- prolactin-secreting pituitary adenoma; pituitary hyperplasia rare; characteristically, can present w/pituitary apoplexy9; other pituitary adenoma subtypes can occur: prolactinoma, NFPA, corticotropinoma, thyrotropinoma

No X-linked acrogigantism8

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GPR101

Female

Early onset (in all cases age 4 yrs)

100%

Mixed GH- prolactin-secreting pituitary adenoma /or hyperplasia of GH- prolactin-secreting pituitary cells; pituitary apoplexy not described

No GH = growth hormone; GHRH = growth hormone-releasing hormone; NFPA = nonfunctioning pituitary adenoma; PPNAD = primary pigmented nodular adrenal disease 1. Syndromic 2. McCune-Albright syndrome is caused by early embryonic postzygotic somatic activating mutation of GNAS 3.

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