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Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

机译:部分雄激素不敏感综合征影响的妊娠第32周时胎儿外生殖器的表面渲染

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Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound.Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5α-reductase 2 gene (SRD5A2).Results. 3D-4D surface rendering allows the detection of external and internal genital malformations and can address the prenatal diagnosis of PAIS and can exclude associated complications.Conclusions. Prenatal diagnosis of PAIS allows an adequate parental counseling and an early optimal management of the condition, not only for the psychological and social reflections but also for the avoidance of complications and postnatal morbidity due to misdiagnosis or delays in the treatment of the genital ambiguity.
机译:目标。通过3D-4D超声证实产前诊断部分雄激素不敏感综合征的可行性。通过3D-4D超声报告46XY核型胎儿在妊娠第32周时的部分雄激素不敏感综合征的产前诊断,对SRY基因和5α-还原酶2基因(SRD5A2)的突变分析呈阴性。 3D-4D表面渲染可以检测外部和内部生殖器畸形,并且可以解决PAIS的产前诊断,并且可以排除相关的并发症。 PAIS的产前诊断可以为父母提供充分的咨询,并尽早对病情进行最佳管理,这不仅是为了心理和社会方面的考虑,而且还可以避免因误诊或延误生殖器歧义性治疗而引起的并发症和产后发病。

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