Growth hormone-secreting pituitary adenoma associated with multiple bone cysts, skin pigmentation and aortitis syndrome
Autor: | Chihiro Ihara, C. Kondo, Akira Shimatsu, Kazumasa Nakao, K. Kataoka, Hiroyuki Murabe |
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Rok vydání: | 1996 |
Předmět: |
musculoskeletal diseases
Adenoma medicine.medical_specialty Pathology Pituitary gland Endocrinology Diabetes and Metabolism Fibrous Dysplasia Polyostotic Endocrinology Pituitary adenoma Internal medicine Acromegaly medicine GTP-Binding Protein alpha Subunits Gs Humans Pituitary Neoplasms Polyostotic fibrous dysplasia Pigmentation disorder Aortitis Base Sequence business.industry Aortic Arch Syndromes Human Growth Hormone Fibrous dysplasia DNA Sequence Analysis DNA Middle Aged medicine.disease Magnetic Resonance Imaging medicine.anatomical_structure Mutation Female business Tomography X-Ray Computed |
Zdroj: | Journal of endocrinological investigation. 19(11) |
ISSN: | 0391-4097 |
Popis: | 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. |
Databáze: | OpenAIRE |
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