Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome
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, testin...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2013/325714 |
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| author | Vincenzo Mazza Emma Bertucci Silvia Latella Carlotta Cani Pierluca Ceccarelli Lorenzo Iughetti Fulvia Baldinotti Antonio Percesepe |
| author_facet | Vincenzo Mazza Emma Bertucci Silvia Latella Carlotta Cani Pierluca Ceccarelli Lorenzo Iughetti Fulvia Baldinotti Antonio Percesepe |
| author_sort | Vincenzo Mazza |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-00fb0a83080046dbad6003c7c7ed8e55 |
| institution | OA Journals |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-00fb0a83080046dbad6003c7c7ed8e552025-08-20T02:03:39ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922013-01-01201310.1155/2013/325714325714Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity SyndromeVincenzo Mazza0Emma Bertucci1Silvia Latella2Carlotta Cani3Pierluca Ceccarelli4Lorenzo Iughetti5Fulvia Baldinotti6Antonio Percesepe7Prenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, ItalyPrenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, ItalyPrenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, ItalyPrenatal Medicine Unit, Policlinico Modena, Via Largo Del Pozzo 71, 41124 Modena, ItalyUnit of Pediatrics Surgery, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, ItalyUnit of Pediatrics, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, ItalyUnit of Cytogenetics and Molecular Genetics, Department of Mother & Child, Pisa University, ItalyUnit of Medical Genetics, Department of Mother & Child, Modena Hospital, Modena and Reggio Emilia University, Via Del Pozzo 71, 41110 Modena, ItalyObjectives. 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.http://dx.doi.org/10.1155/2013/325714 |
| spellingShingle | Vincenzo Mazza Emma Bertucci Silvia Latella Carlotta Cani Pierluca Ceccarelli Lorenzo Iughetti Fulvia Baldinotti Antonio Percesepe Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome Case Reports in Obstetrics and Gynecology |
| title | Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome |
| title_full | Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome |
| title_fullStr | Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome |
| title_full_unstemmed | Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome |
| title_short | Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome |
| title_sort | surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome |
| url | http://dx.doi.org/10.1155/2013/325714 |
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