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雄激素不敏感综合征罕见变异型的产前诊断及早期腹腔镜治疗

Antenatal diagnosis and early laparoscopic treatment of a rare variation of androgen-insensitivity syndrome.

作者信息

Lima M, Libri M, Morabito A, Lauro V, Tani G, Dòmini M

机构信息

Department of Paediatric Surgery, University of Bologna, Italy.

出版信息

Eur J Pediatr Surg. 2001 Dec;11(6):422-4. doi: 10.1055/s-2001-19719.

Abstract

Androgen-insensitivity syndrome (AIS) (Testicular feminisation or Morris syndrome) is characterised by external female genitalia and bilateral testes with a normal male karyotype. This kind of syndrome is transmitted recessively. Presence of hypoplastic and short "pseudo-vagina" is one of the characteristics of this syndrome. We report here a case of AIS in which there was a well-formed vagina (6 cm). The case was diagnosed antenatally and managed laparoscopically.

摘要

雄激素不敏感综合征(AIS)(睾丸女性化或莫里斯综合征)的特征是外生殖器为女性,双侧睾丸,核型为正常男性。这种综合征为隐性遗传。存在发育不全且短的“假性阴道”是该综合征的特征之一。我们在此报告一例雄激素不敏感综合征患者,其阴道发育良好(6厘米)。该病例在产前被诊断出来,并通过腹腔镜进行了处理。

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