先天性卵巢发育不全20例临床分析及随访

Clinical Analysis and Follow-up of 20 Cases of Congenital Gonadai Dysgenesis

本文介绍先天性卵巢发育不全20例,其中原发性闭经18例,身材矮小1例,另1例为新生儿。患者外周血淋巴细胞常规培养,制片,G显带进行核型分析,部分病例作C带,高分辨、内分泌功能检查、X线摄片及气腹造影等检查。染色体核型表现为45,X者12例,45,X嵌合体6例,1条X染色体结构异常者2例。其中1例为45,X/46,XX患者婚后妊娠,分娩一正常女婴。随洧时间为4个月至20年。随访结果表明,对这类患者目前虽不能从根本上解决问题,但支持疗法可促进发育,恢复表型,维持女性牛理状态,减少精神痛苦。文章对先天性卵巢发育不全患者染色体核型种类,各型的症状及体征、治疗等进行了讨论。

This paper reports clinical and cytogenetic studies on 20 cases of congenital ovary dysgenesis (Turner syndrome). The clinical studies included the history, physical and pelvic examinations, blood FSH, LH and estradiol determinations, and pneumoperitoneography, Cytogenetic studies on the karyotype of lymphocytes were performed with G,C banding and high resolution chromosome banding techniques. There were karyotypes with 45,X in 12 cases,46, XX/45,X in 2 cases, 45,X/46,XX/46,XXp- in 2 cases, 45, X/46,Xi (Xq) in 2 cases,45,X(Xqace) in one case and 46,Xi(Xq) in one case. One of these patients (46,XX/45,X) had a term pregnancy, and a girl has grown well. Treatment was mainly low-dose estrogen replacement therapy with cyclic administration of progesterone. These patients were followed up from four months to 20 years. Six of them were married with normal sexual activity. The patients' height was increased by 2 to 10 cm after treatment. It is concluded that the supporting treatment is beneficial whenever the diagnosis is made.