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睾丸女性化综合征是一种 X 连锁隐性遗传疾病。我们遇到8例,其中两对挛生姐妹,现报告如下。例1,20岁,社会性别女,因原发闭经就诊。体检:患者女性外貌,发育营养中等,无喉节,声音不粗。无腋毛,双侧乳房呈女性发育。双侧腹股沟触及4×3×2cm(左)及3×3×2cm(右)大小包块,活动,光滑,无触痛,外阴发育女性,阴毛缺如,阴蒂正常大小,阴道短,呈盲端。肛诊检查未触及子宫及附件。实验室检查:17—羟7.0mg/24小时尿,17—酮4.7mg/24小时尿,尿雌激素总量9.9μg/24小时。外周血细胞染色体分析,核型为46XY。临床诊断为完全睾丸女性化综合征。于1983年5月行腹腔镜检查及双侧腹股
Testicular feminization syndrome is a X-linked recessive genetic disease. We encountered eight cases, of which two pairs of twin sisters, are as follows. Example 1, 20 years old, female gender, due to primary amenorrhea treatment. Physical examination: female patients appearance, developmental nutrition, no throat, the voice is not rough. No armpit hair, bilateral breast was female development. Bilateral inguinal touching 4 × 3 × 2cm (left) and 3 × 3 × 2cm (right) size of the mass, activity, smooth, no tenderness, genital development of women, pubic hair missing, clitoris normal size, short vagina, was blind end. Rectal examination did not touch the uterus and accessories. Laboratory tests: 17-hydroxy-7.0mg / 24-hour urine, 17-ketone 4.7mg / 24-hour urine, total urinary estrogen 9.9μg / 24 hours. Chromosome analysis of peripheral blood cells, karyotype 46XY. Clinical diagnosis of complete testicular feminization syndrome. In May 1983 laparoscopy and bilateral inguinal