47 XXY/46 XY Mosaic Klinefelter's Syndrome Presenting with Multiple Endocrine Abnormalities.

• TOJO Katsuyoshi

  The Second Department of Internal Medicine, the Jikei University School of Medicine

• KAGUCHI Yoshihiko

  The Second Department of Internal Medicine, the Jikei University School of Medicine

• TOKUDOME Goro

  The Second Department of Internal Medicine, the Jikei University School of Medicine

• KAWAMURA Tetsuya

  The Second Department of Internal Medicine, the Jikei University School of Medicine

• ABE Aya

  The Second Department of Internal Medicine, the Jikei University School of Medicine

• SAKAI Osamu

  The Second Department of Internal Medicine, the Jikei University School of Medicine

抄録

We report here a rare case of 47 XXY/46 XY mosaic Klinefelter's syndrome associated with multiple endocrine disorders. A 35-year-old male admitted for the evaluation of renal dysfunction and recurrent bone fractures was diagnosed as having Klinefelter's syndrome by endocrinological examinations and sex chromosome analysis. He has suffered from diabetes mellitus for more than ten years. The serum FSH and LH levels were high together with low free testosterone and estradiol levels. There was a discrepancy between basal serum GH and somatomedin-C levels. On admission, thyroid function revealed thyrotoxicosis with low radioactive iodine uptake and negative thyroid autoantibodies. During hospitalization, serum FT₃ and FT₄ levels were gradually decreased and serum TSH levels became elevated, leading to the diagnosis of subacute thyroiditis. Serum ACTH levels showed high basal levels with delayed, exaggerated responses to insulin-induced hypoglycemia. Rapid ACTH test (^1-24ACTH 0.25 mg) showed low cortisol responses and many of the adrenocortical steroids in plasma and urine were low or low normal. Furthermore, bone mineral density (BMD) by DEXA showed marked osteoporosis. Possible mechanisms underlying these varied endocrine disorders remain to be elucidated.<br>(Internal Medicine 35: 396-402, 1996)

収録刊行物

• Internal Medicine

  Internal Medicine 35 (5), 396-402, 1996

  一般社団法人 日本内科学会

キーワード

• diabetes mellitus
• renal insufficiency
• subacute thyroiditis
• osteoporosis
• hypothalamic-pituitary disorders

詳細情報

• CRID: 1390001204867526400
• NII論文ID: 10007003044
• NII書誌ID: AA10827774
• DOI: 10.2169/internalmedicine.35.396
• COI: 1:STN:280:BymA1cbps1U%3D
• ISSN: 13497235
• ISSN: 09182918
• PubMed: 8797055
• Web Site: http://www.jstage.jst.go.jp/article/internalmedicine1992/35/5/35_5_396/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/1996231108
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可