無精子症における染色体異常の検討

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無精子症85例に対し末梢血リンパ球培養による染色体検査を施行したところ,23例(27%)になんらかの異常をみとめた.最も多くみられたのが47,XXYのクラインフェルター症候群の17例であった.希有な疾患として46,XXp+ (XX maleとしては本邦30例目,XXp+としては2例目),46,XYp+(既報告なし),46,XYq- (7例目)などを認めた.常染色体異常としては,転座2例,r(18)が1例であったChromosomal examination in 85 patients with azoospermia revealed 62 patients (73%) with the karyotype 46, XY and 23 patients (27%) with other abnormal karyotypes. In this population, there were 17 patients with 47, XXY. Other anomalies were: 46, XYp+, 46, XXp+, 46, XYp-, 45, X, t (Ynf; 21), 45, XY, t (13q 15q), and 46, XY, r (18). Serum LH and FSH levels were high and testosterone level was low in the patients with 47, XXY compared with the other 6 patients (p less than 0.01). Also the mean value of testicular volume was low in the patients with 47, XXY (p less than 0.05).