Spectrum of pituitary disease in multiple endocrine neoplasia type 1 (MEN 1): clinical, biochemical, and radiological features of pituitary disease in a large MEN 1 kindred.
Prolactinomas and somatotropinomas are reported to be the pituitary lesions most frequently associated with multiple endocrine neoplasia type 1 (MEN 1). However, few reports have documented the full spectrum of pituitary disease in this condition. We report herein the clinical, biochemical (PRL, alpha-subunit, insulin-like growth factor-I, cortisol, and thyroid function), and radiological (magnetic resonance imaging and computerized tomography scan) characteristics of pituitary disease occurring in a single MEN 1 pedigree containing 165 MEN 1-affected members. Pituitary lesions were detected in 30 (18%) of 165 patients overall. In the subgroup of MEN 1 patients (n = 131) living after recognition of MEN 1 in the kindred, pituitary lesions were detected in 25 (19%). In 76% of patients with pituitary lesions, the diagnosis was made by prospective screening; the remainder sought medical attention for symptomatic pituitary disease. Prolactinomas accounted for 76%, and nonfunctioning adenomas accounted for the remaining 24%. alpha-Subunit elevation was observed in 29% of 41 patients tested, and an aggressive alpha-subunit secreting macroadenoma developed in 1 subject with a previously documented prolactinoma. Progression of pituitary disease occurred in 47% of patients with prolactinoma. There were no cases of Cushing's disease, thyrotropinoma, or somatotropinoma. We conclude that 1) in addition to prolactinomas, nonfunctioning pituitary tumors are common in MEN 1; 2) alpha-subunit hypersecretion is frequent in MEN 1; 3) comprehensive screening may identify many clinically significant but asymptomatic pituitary lesions; and 4) prolactinomas occurring in MEN 1 may behave more aggressively than sporadic prolactinomas.
Burgess
J R
JR
Department of Diabetes and Endocrine Services, Royal Hobart Hospital, Tasmania, Australia.
Shepherd
J J
JJ
Parameswaran
V
V
Hoffman
L
L
Greenaway
T M
TM
D000236:Adenoma / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D010902:Pituitary Gland / Q000503:physiopathology; D010911:Pituitary Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D011388:Prolactin / Q000378:metabolism; D015175:Prolactinoma / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D011446:Prospective Studies; D011859:Radiography; D012189:Retrospective Studies; D013648:Tasmania
D011388:Prolactin