RSS-Feed abonnieren
PDF herunterladen
DOI: 10.1055/s-0043-57035
Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome
Abstract
Swyer syndrome, also known as complete gonadal dysgenesis, is characterized by an individual who has an XY karyotype but is phenotypically female. It is typically diagnosed in adolescence after investigations for primary amenorrhea. The estimated prevalence is 1 in 20,000 to 80,000 births. Mutations in the DNA-binding region of the SRY gene account for approximately 15 to 20% of cases, with the remaining cases caused by other gene mutations. There are no reports of the established diagnosis of Swyer syndrome prenatally, or of the sonographic features that may be associated with it. This report outlines the details of a 33-year-old primigravida in whom a fetal cystic hygroma was noted on ultrasound at 12 weeks gestation. Chorionic villous sampling revealed a diagnosis of fetal Swyer syndrome. The fetus progressed to develop severe fetal hydrops and a parental decision for termination of pregnancy was made at 15 weeks of gestation.
Consent
Informed written consent was obtained from the patient for this case report.
Note
This case report was written in accordance with the amended Declaration of Helsinki.
Authors' Contributions
DTK wrote the case report and attended to the patient. MD and ALB contributed to the writing of the manuscript and attended to the patient. JM contributed and supervised the writing of the manuscript and also attended to the patient.
Consent to Publish
Written informed consent was obtained from the patient for publication of this case report and any accompanying figures/images.
Ethical Approval
Ethical approval was not required from our institution.
Publikationsverlauf
Artikel online veröffentlicht:
12. Mai 2023
© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
-
References
- 1 Scholl J, Chasen ST. First trimester cystic hygroma: does early detection matter?. Prenat Diagn 2016; 36 (05) 432-436
- 2 Alpman A, Cogulu O, Akgul M. et al. Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals. Fetal Diagn Ther 2009; 25 (01) 58-61
- 3 Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG 2008; 115 (06) 737-741
- 4 Hagen A, Knoll U, Entezami M. EP16.28: Prenatal diagnosis of a Swyer syndrome as a result of gender discrepancy in NIPT and ultrasound. Ultrasound Obstet Gynecol 2019; 54: 333-333