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本文对64例闭经患者进行了常规阴道或口腔粘膜X染色质检查、周围血培养及染色体核型分析;选择其中最常见的先天性卵巢发育不全症20例,从诊断、临床表现及处理等方面进行分析讨论。20例的核型为45X14例,嵌合体45X/46XX5例,结构畸变1例。临床特征为:女性、身材矮小、有不同程度的各种畸形、智力较差、第二性征、阴道子宫均发育不良,卵巢发育不全。身材在1.5米以下,骨骺尚未闭合者,用苯丙酸诺龙治疗,其余以雌一孕激素周期治疗。
In this paper, 64 cases of amenorrhea patients were routine vaginal or oral mucosal X-ray examination, peripheral blood culture and chromosome karyotype analysis; select the most common 20 cases of congenital ovarian hypoplasia, diagnosis, clinical manifestations and handling aspects For analysis and discussion. Karyotype of 20 cases was 45X14 cases, chimerism 45X / 46XX5 cases, structural aberration in 1 case. Clinical features: women, short stature, with varying degrees of deformity, mental retardation, secondary sexual characteristics, vaginal uterine dysplasia, ovarian hypoplasia. Body below 1.5 meters, epiphysis has not closed, with nandrolone phenylpropionate treatment, and the remaining cycles of estrogen and progesterone treatment.