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2 Table 1 Laboratory data on admission Table 2 Laboratory data related to glucose metabolism Table 3 Endocrinological data
3 糖 尿 病 を 合 併 し た48,XXYY 候 群 の1例 Fig. 2 Chromosomal lymphocytes analysis. All of 30 peripheral showed the 48, XXYY kar- yotype without translocation according to the G-band method. The Q-band method revealed double Y bodies. Fig. 1 X-ray film of the elbow joint showing radioulnar synostosis. に通 常両 親 ともに染 色 体 は正 常 で あ る こ とが多 く,主 考 1960年 maleと にMuldalとOckey5)に よ り,double し て 初 め て 報 告 さ れ たXXYY症 は,XXY型 の 高 身 長,骨 格 系 の 異 常,皮 膚 血 管 系 の 異 常 な どが 候群 候 群 の 亜 型 で あ るの か,或 い は独 立 した 別 の 疾 患 と考 え るべ きな の か は議 論 の 余 地 が 多 い が,そ の 発 生 頻 度 はXXY型 人 に対 して, 人 邦 で は 現 在 ま で に30例 の1000人 に1人 と低 く6,7),本 ほ どの 報 告 が あ る だ け で か な り稀 な 染 色 体 異 常 で あ る. 48,XXYYの 子 の 接 合,(2)正 候 群 に お け る糖 尿 病 の 合 併 頻 度 %と 高 い の に 比 し4,9,10),本 邦 で は 低 い11,12).欧 米 と比 較 し て 頻 度 が 低 い 原 因 は 不 明 で あ る が,相 ら11)は 本 邦 の 候 群 の 報 告例 で は糖 代 謝 異 常 の検 (42%), 尿 病 候 群12例 46, XXYが24例 常 卵 子 と第 楽 索 が 十 分 に 行 わ れ て い な か っ た 可 能 性 も指 摘 し て XY/47, 4例 し た が5例 XXYが4例(33%), 48, karyotype別 で は, 47, 中5例(21%), 中4例(100%), を 合 併 中47,XXY XXXYが3例(25%)で, 成 因 は 未 だ 解 明 さ れ て い な いが, 子 とYY精 る. い る.Nielsenら4)は,糖 に1 尿 病 な ど糖 代 謝 異 常 を合 併 す る頻 度 が 高 い こ とが 知 ら れ て い は 欧 米 で15 50%と 度 の 知 能 障 害, 認 め られ る こ とが 報 告 され て い る.XXYY症 が 従 来 よ り性 染 色 体 異 常 症 に は,糖 候群 で 候 群 の有 す る 一 般 の 表 現 型 に加 え て攻 撃 的 な 性 格,高 (1)XX卵 に 胚 細 胞 形 成 過 程 や 受 精 後 の 不 分 離 か ら生 じ た 散 発 例 と考 え ら れ る. 察 46, XY/47, 48, XXXY が3例 XXYが 中3例 1,第2減 数 分 裂 に お け る連 続 不 分 離 の た め生 じ (100%)に たXYY精 子 の 接 合,(3)受 精 後 の細 胞 分 裂 に お け 尿 病 の 合 併 頻 度 が 高 い こ と を 報 告 し て い る.そ る不 分 離 な どが 推 測 され て い る6).XXX症 母 親 か ら生 ま れ た 報 告 例8)も あ るが,本 候群 の 例 と同 様 621 糖 尿 病 を 認 め て お り,亜 理 由 と し て,糖 代 謝 系 の 主 な 酵 素 がX染 在 し て お り13),過 型 に お い て糖 剰 なX染 の 色 体 に存 色 体 が 増 え る ほ どGlu-
4 1) Jacob PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183: ) Hsueh WA, Hsu TH, Federman DD (1978) Endo- crine features of Klinefelter's syndrome. Medicine 57: ) Nielsen J, Johansen K, Yde H (1969) Frequency of diabetes mellitus in patients with Klinefelter's syndrome of different chromosome constitutions and the XYY syndrome. Plasma insulin and growth hormone level after a glucose load. J Clin Endocrinol Metab 29: ) Muldal S, Ockey CH (1960) A new chromosome constitution in Klinefelter's syndrome. Lancet II: ) Hook EB (1973) Behavioral implications of the human XYY genotype. Science 179: ) Kodama T, Imai H, Nakamoto Y, Sugawara T, Miura A (1992) 48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)- dependent pseudothrombocytopenia. Intern Med 31: ) Zizka J, Balicek P (1975) XXYY son of a triple-x mother. Humangenetick 26: ) Kenneth LB, David LH, Albert A, Underdahl LO, Halold LM, Minn R (1966) Klinefelter's syndrome. Arch Intern Med 118: ) Forbes AP, Engel E (1969) The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives. Metabolism 5: ) Jackson IMD, Buchnan KD, Mckiddie MT, Prentice CR (1966) Carbonydrate metabolism in Klinefelter's syndrome. J Endocrinol 35: ) Tada, K, Hayashi T (1965) Erythrocyte glucose-6- phosphate dehydrogenase activity in Klinefelter's syndrome. Tohoku J Exp Med 85:
5 17) Peterson WC, Gorlin RJ, Peagler F, Bruhl H (1966) Cutaneous aspects of the XXYY genotype. Arch Derm 94 : Abstract A Case of 48, XXYY Klinefelter's Syndrome Associated with Diabetes Mellitus Yuhei Shibutani Division of Endocrinology, Department of Internal Medicine, Nishi-Kobe Medical Center 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 jig/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. J. Japan Diab. Soc. 40 (9) : , 1997
1) Roth, J., Glick, S. M., Yalow, R. S. and Berson, S. A.: Hypoglycemia: A potent stimulus to secretion of growth hormone. Science, 140, 987-988, 1963. 2) Ogawa, N.: Routine Ultramicro-Measurement of Human
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