Growth hormone-secreting pituitary adenoma associated with multiple bone cysts, skin pigmentation and aortitis syndrome.
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.
Ihara
C
C
Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Japan.
Shimatsu
A
A
Murabe
H
H
Kataoka
K
K
Kondo
C
C
Nakao
K
K
D000236:Adenoma / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D001015:Aortic Arch Syndromes / Q000150:complications*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D019382:Human Growth Hormone / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D010911:Pituitary Neoplasms / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
D019382:Human Growth Hormone; D004247:DNA; D019205:GTP-Binding Protein alpha Subunits, Gs