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陈某17岁,高二学生,无性生活史。因“身矮,原发闭经,无明显第二性征发育”于2011年3月8日就诊重庆市第九人民医院。查体:身高139.0 cm,体重24.0公斤,智力正常,幼时即有近视,面部无明显多痣,无颈蹼,后发际正常,肘不外翻,无腋毛。乳房发育差,间距正常,Tanner乳腺发育分期为B2期。外生殖器幼女型,无阴毛,Marshall阴毛分期为P1期。家族情况:其父身高158.0 cm,其母身高156.0 cm,父系家族身高较矮,其父两个妹妹均140~+cm,均能正常生育。辅助检查:细胞遗传学检查:外周血淋巴细胞染色体G显带分析30个核型均为46,x,i(X_q)/45,x。性激素六项测定:黄体生成素:10.04
Chen 17-year-old, sophomore, asexual life history. Because of “body short, primary amenorrhea, no significant secondary sexual development” on March 8, 2011 Chongqing Ninth People’s Hospital. Physical examination: height 139.0 cm, weight 24.0 kg, normal intelligence, that is, myopia when young, no obvious facial mole, no neck webbed, normal hair after the elbow valgus, no armpit hair. Poor breast development, normal spacing, Tanner mammary gland development stage B2. External genital kittens, no pubic hair, pubic hair stage of Marshall P1 period. Family situation: The height of his father is 158.0 cm and his height is 156.0 cm. The father family has a short height and his father and his two sons are 140 ~ + cm, both of whom can have normal fertility. Auxiliary examination: cytogenetic examination: peripheral blood lymphocyte chromosome G banding analysis of 30 karyotype are 46, x, i (X_q) / 45, x. Sex hormone six determination: luteinizing hormone: 10.04