Pregnancy and delivery in a patient with pure 46,XY karyotype. Summary of actual knowledge about XY women
Abstract
Type of study: Summary review and a case report. Settings: GEST IVF, Centre of Reproductive Medicine, Prague.
Introduction: In scientific literature there two syndroms have been described in the presence of pure 46,XY karyotype when an individual is phenotypically and psychosexually identified as a woman. Androgen insensitivity syndrom (AIS) and pure gonadal dysgenesis XY (GD XY, Swyer syndrom).
Thanks to the presence of a uterus in Swyer syndrom we can treat this type of sterility with donated oocytes. Method: The paper describes both syndromes from prenatal, genetical, endocrinological, oncological, reproductive and perinatological points of view.
A case study corncerning a patient with pure gonadal dysgenesis XY, who successfully became pregnant through a donated oocytes programme, is also described. The pregnancy progressed physiologically, and a healthy boy, 3820g/52cm, was delivered in term by ceasarean section.
Discussion: In world scientific literature at least fifteen successful pregnancies with pure gonadal dysgenesis XY have been described. In spite of the expectation of diminished uterine capacity, children are born to term with a normal delivery weight.
Conclusion: This article should be considered as a summary of all actual knowledge about these patients. This article should be available and usefull for clinicians who come across XY females.
The case study provides evidence that even an individual with male genetic gender can be pregnant and deliver a healthy child.