androgen insensitivity syndrome Archives - Revista Brasileira de Ginecologia e Obstetrícia
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Revista Brasileira de Ginecologia e Obstetrícia. 2021;43(9):710-712
, , , , , , With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2021;43(9):710-712
, , , , , , With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2016;38(9):456-464
To evaluate the anatomic and functional results of a laparoscopic modified Vecchietti technique for the creation of a neovagina in patients with congenital vaginal aplasia.
Retrospective study of nine patients with congenital vaginal aplasia submitted to the laparoscopic Vecchietti procedure, in our department, between 2006 and 2013. The anatomical results were evaluated by assessing the length, width and epithelialization of the neovagina at the postoperative visits. The functional outcome was evaluated using the Rosen Female Sexual Function Index (FSFI) questionnaire and comparing the patients' results to those of a control group of 20 healthy women. The statistical analysis was performed using SPSS Statistics version 19.0 (IBM, Armonk, NY, USA), Student t-test, Mann-Whitney U test and Fisher exact test.
The condition underlying the vaginal aplasia was Mayer-Rokitansky-KüsterHauser syndrome in eight cases, and androgen insensitivity syndrome in one case. The average preoperative vaginal length was 2.9 cm. At surgery, the mean age of the patients was 22.2 years. The surgery was performed successfully in all patients and no intra or postoperative complications were recorded. At the first postoperative visit (6 to 8 weeks after surgery), the mean vaginal length was 8.1 cm. In all cases, the neovagina was epithelialized and had an appropriate width. The mean FSFI total and single domain scores did not differ significantly from those of the control group: 27.5 vs. 30.6 ( total); 4.0 vs. 4.2 (desire); 4.4 vs. 5.2 (arousal); 5.2 vs. 5.3 (lubrication); 4.2 vs. 5.0 ( orgasm); 5.3 vs. 5.5 (satisfaction) and 4.4 vs. 5.4 ( comfort ).
This modified laparoscopic Vecchietti technique is a simple, safe and effective procedure, which allows patients with congenital vaginal aplasia to have a satisfactory sexual activity, comparable to that of normal controls.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2016;38(9):456-464
To evaluate the anatomic and functional results of a laparoscopic modified Vecchietti technique for the creation of a neovagina in patients with congenital vaginal aplasia.
Retrospective study of nine patients with congenital vaginal aplasia submitted to the laparoscopic Vecchietti procedure, in our department, between 2006 and 2013. The anatomical results were evaluated by assessing the length, width and epithelialization of the neovagina at the postoperative visits. The functional outcome was evaluated using the Rosen Female Sexual Function Index (FSFI) questionnaire and comparing the patients' results to those of a control group of 20 healthy women. The statistical analysis was performed using SPSS Statistics version 19.0 (IBM, Armonk, NY, USA), Student t-test, Mann-Whitney U test and Fisher exact test.
The condition underlying the vaginal aplasia was Mayer-Rokitansky-KüsterHauser syndrome in eight cases, and androgen insensitivity syndrome in one case. The average preoperative vaginal length was 2.9 cm. At surgery, the mean age of the patients was 22.2 years. The surgery was performed successfully in all patients and no intra or postoperative complications were recorded. At the first postoperative visit (6 to 8 weeks after surgery), the mean vaginal length was 8.1 cm. In all cases, the neovagina was epithelialized and had an appropriate width. The mean FSFI total and single domain scores did not differ significantly from those of the control group: 27.5 vs. 30.6 ( total); 4.0 vs. 4.2 (desire); 4.4 vs. 5.2 (arousal); 5.2 vs. 5.3 (lubrication); 4.2 vs. 5.0 ( orgasm); 5.3 vs. 5.5 (satisfaction) and 4.4 vs. 5.4 ( comfort ).
This modified laparoscopic Vecchietti technique is a simple, safe and effective procedure, which allows patients with congenital vaginal aplasia to have a satisfactory sexual activity, comparable to that of normal controls.
