雄激素不敏感综合征：通过四维超声和羊水核型分析进行宫内诊断。

Androgen insensitivity syndrome: in utero diagnosis by four-dimensional sonography and amniotic fluid karyotype.

作者信息

Bonilla-Musoles Fernando, Kushner-Dávalos Luis, Raga Francisco, Machado Luiz E, Osborne Newton G

机构信息

Department of Obstetrics and Gynecology, Valencia School of Medicine, Hospital Clínico Blasco Ibáņez, 17 46010 Valencia, Spain.

出版信息

J Clin Ultrasound. 2006 Jan;34(1):30-2. doi: 10.1002/jcu.20183.

DOI:10.1002/jcu.20183

PMID:16353232

Abstract

We describe a fetus with androgen insensitivity syndrome diagnosed at 16 weeks' gestation with two-dimensional (2D) and four-dimensional (4D) sonography and karyotype analysis in a 37-year-old pregnant woman. Two-dimensional (2D) sonography revealed a female phenotype. Karyotype analysis revealed an unremarkable 46,XY chromosomal complement. Repeat 4D sonography confirmed a female phenotype with edematous labia majora, consistent with androgen insensitivity syndrome.

摘要

我们描述了一名在孕16周时通过二维（2D）和四维（4D）超声检查以及核型分析诊断为雄激素不敏感综合征的胎儿，该孕妇37岁。二维（2D）超声检查显示为女性表型。核型分析显示染色体组型为正常的46,XY。重复的四维超声检查确认了女性表型，伴有大阴唇水肿，符合雄激素不敏感综合征。