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Case Reports in Obstetrics and Gynecology
Volume 2013, Article ID 325714, 3 pages
http://dx.doi.org/10.1155/2013/325714
Case Report

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

1Prenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, Italy
2Unit of Pediatrics Surgery, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, Italy
3Unit of Pediatrics, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, Italy
4Unit of Cytogenetics and Molecular Genetics, Department of Mother & Child, Pisa University, Italy
5Unit of Medical Genetics, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, Italy

Received 26 June 2013; Accepted 17 July 2013

Academic Editors: M. Furuhashi, I. Hoesli, I. Kowalcek, and I. M. Usta

Copyright © 2013 Vincenzo Mazza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.