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[核型为XO均质型或嵌合型女性的性腺功能。5例可育女性的病例报告(作者译)]

[Gonad function of women with homogenous karyotype XO or with mosaic form. Five case histories of fertile women (author's transl)].

作者信息

Mavel A, Turc C, Feldman J P, Michiels Y, Nivelon-Chevallier A, Koslowski J P, Gervais G

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1980;9(8):875-86.

PMID:7217638
Abstract

The authors report five cases of fertile women who have Karyotype XO. After a short review of the classification of Turner's syndrome and of the physiopathology of the defective gonads in these patients, 79 cases in the literature and these 5 cases were reviewed and they allow us: a precise description of the morphology of these patients, which is dominated by the high incidence of small growth and the presence of the various degrees of malformations often found in Turner's syndrome; to study the gonad structure and function of these patients who have spontaneous menstruation. And finally to analyse the prognosis of pregnancies that have occurred in 33 women with an XO clone. These women have not only a raised incidence of spontaneous abortions at 32% but also frequent fetal malformations and chromosome abnormalities in the products of conception. It is therefore vital to carry out early amniocentesis in these patients.

摘要

作者报告了5例核型为XO的育龄妇女。在对特纳综合征的分类以及这些患者性腺发育不全的生理病理学进行简要回顾后,对文献中的79例病例和这5例病例进行了回顾,这使我们能够:精确描述这些患者的形态,其特点是身材矮小发生率高以及存在特纳综合征中常见的各种程度的畸形;研究这些有自然月经的患者的性腺结构和功能。最后分析33例XO核型女性已发生妊娠的预后情况。这些女性不仅自然流产发生率高达32%,而且受孕产物中胎儿畸形和染色体异常也很常见。因此,对这些患者进行早期羊水穿刺至关重要。

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