| Literature DB >> 9061509 |
C Ihara1, A Shimatsu, H Murabe, K Kataoka, C Kondo, K Nakao.
Abstract
McCune-Albright syndrome (MAS) is clinically characterized by polyostotic fibrous dysplasia, cafe au lait pigmentation of the skin and multiple endocrinopathies. Recently activating mutations of codon 201 in the gene encoding Gs alpha have been found in affected tissues in MAS. Herein we report a case of acromegaly associated with multiple bone cysts and skin pigmentation in a 47-year-old women. She had suffered a history of aortitis syndrome. The DNA sequence indicated that a Cys201 for Arg201 substitution was found in the GH secreting pituitary adenoma tissue but not in peripheral mononuclear cells. We speculate that the patient has a possible variant from of MAS characterized by multiple bone lesions skin pigmentation and GH-secreting pituitary adenoma.Entities:
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Year: 1996 PMID: 9061509 DOI: 10.1007/BF03347879
Source DB: PubMed Journal: J Endocrinol Invest ISSN: 0391-4097 Impact factor: 4.256