Pregnancy in a Case of Pure Gonadal Dysgenesis: A Rare Case Study

Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The clinical manifestation of disease includes primary amenorrhoea, failure to develop secondary sexual characters and also infertility. Here we are reporting a case of 29 year old phenotypic female who presented with primary infertility with 46, XX karyotype with hypoplastic uterus and streak ovaries (on imaging), with high gonadotropins level and low estradiol. After evaluation of the couple and proper counseling plan was made to go for cyclic hormone therapy for 3 months followed by donor oocyte and husband sperm IVF due to hypoplastic uterus with gonadal dysgenesis. 3 Day 3 embryos were transferred after hormonal therapy of 3 months. She was conceived with twins and later delivered 2 healthy babies at 9 months. We conclude that, pregnancy can be achieved even in gonadal dysgenesis patients after proper diagnosis of the condition and counseling the couple regarding the best treatment options available.