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Intern Med. 2009;48(6):447-53. Epub 2009 Mar 16.

Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

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Department of Aging Medicine and Geriatrics, Division of Medicine, Institute on Aging and Adaptation, Shinshu University Graduate School, Matsumoto.


A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

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