[Pregnancy and delivery in a patient with pure 46,XY karyotype. Summary of actual knowledge about XY women].

TYPE OF STUDY

Summary review and a case report.

SETTINGS

GEST IVF, Centre of Reproductive Medicine, Prague.

INTRODUCTION

In scientific literature there two syndrome have been described in the presence of pure 46,XY karyotype when an individual is phenotypically and psychosexually identified as a woman. Androgen insensitivity syndrome (AIS) and pure gonadal dysgenesis XY (GD XY, Swyer syndrome). Thanks to the presence of a uterus in Swyer syndrome 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 concerning 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.