糖尿病を合併した48,XXYY Klinefelter症候群の1例

DOI

書誌事項

タイトル別名
  • A Case of 48, XXYY Klinefelter's Syndrome Associated with Diabetes Mellitus.

抄録

A patient with 48, XXYY Klinefelter's syndrome accompanied by diabetes mellitus is reported. A 34-year-old man with diabetes diagnosed at the age of 26 years had been treated with insulin (44 U/day). He was referred to our hospital because of thirst, polyuria, general malaise, and poor glycemic control (HbA1c 13.6%). On examination he was found to have mental retardation, radioulnar synostosis, varicose veins, gynecomastia, and small testes. Endocrinologically the serum testosterone level was low and basal LH and FSH levels were elevated. Urinary C-peptide (CPR) was 10.5-14.4 μg/day and serum CPR showed a low response to glucagon. Anti-islet cell antibody and anti-GAD antibody were both negative. Chromosomal analysis showed that the cell karyotype was 48, XXYY, and the patient was diagnosed as having a rare variant of Klinefelter's syndrome.

収録刊行物

  • 糖尿病

    糖尿病 40 (9), 619-623, 1997

    一般社団法人 日本糖尿病学会

詳細情報 詳細情報について

  • CRID
    1390001204905964800
  • NII論文ID
    130004338399
  • DOI
    10.11213/tonyobyo1958.40.619
  • ISSN
    1881588X
    0021437X
  • 本文言語コード
    ja
  • データソース種別
    • JaLC
    • CiNii Articles
  • 抄録ライセンスフラグ
    使用不可

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