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.

Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome / Mazza, V; Bertucci, Emma; Latella, S; Cani, C; Ceccarelli, P; Iughetti, Lorenzo; Baldinotti, F; Percesepe, Antonio. - In: CASE REPORTS IN OBSTETRICS AND GYNECOLOGY. - ISSN 2090-6692. - ELETTRONICO. - 2013:(2013), pp. 1-3. [10.1155/2013/325714]

Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome.

BERTUCCI, Emma;IUGHETTI, Lorenzo;PERCESEPE, Antonio
2013

Abstract

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.
2013
2013
1
3
Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome / Mazza, V; Bertucci, Emma; Latella, S; Cani, C; Ceccarelli, P; Iughetti, Lorenzo; Baldinotti, F; Percesepe, Antonio. - In: CASE REPORTS IN OBSTETRICS AND GYNECOLOGY. - ISSN 2090-6692. - ELETTRONICO. - 2013:(2013), pp. 1-3. [10.1155/2013/325714]
Mazza, V; Bertucci, Emma; Latella, S; Cani, C; Ceccarelli, P; Iughetti, Lorenzo; Baldinotti, F; Percesepe, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/984305
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