Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus.
We report a rare case of Klinefelter's syndrome (KS) with mixed connective tissue disease (MCTD), diabetes mellitus (DM) and several endocrine disorders. A 57-year-old man presented with polyarthritis and tapering fingers with Raynaud's phenomenon on admission. In addition to a karyotype of 47, XXY, a marked restrictive change in respiratory functional test, a myogenic pattern in electromyogram, the positive tests for anti-RNP antibody indicated that this was a case of KS complicated with MCTD. The patients also presented DM with insulin resistance, hyperprolactinemia, slight primary hypothyroidism and hypoadrenocorticism. The mechanism for these coincidences remains to be elucidated.
Takeuchi
Y
Y
Department of Internal Medicine, Nagoya National Hospital.
Murata
Y
Y
Sintani
J
J
Masukawa
H
H
Nakamura
R
R
Oi
K
K
Kato
Y
Y
Niinomi
M
M
D001168:Arthritis / Q000150:complications*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications*; D004700:Endocrine System Diseases / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007713:Klinefelter Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008947:Mixed Connective Tissue Disease / Q000150:complications*; D010375:Pedigree