Swyer-James syndrome or 46, XY female is an unusual condition, characterized by pure gonadal dysgenesis in a phenotypic female patient. Successful pregnancy is even rarer as these patients will require oocyte donation program. We present a 39 year old lady with 46, XY pure gonadal dysgenesis who had a successful pregnancy through in-vitro fertilization by oocyte donation.
At her original presentation in 1984, our patients main complaint was primary amenorrhoea. Her general appearance was that of a phenotypic woman but with eunuchoidal features. Her height was on the 97th percentile (5 feet and 8 inches). Hormonal evaluation revealed hypergonadotropic hypogonadism. Chromosomal analysis showed 46, XY karyotype. At laparotomy a small hypoplastic uterus and fallopian tubes were noted. Gonadectomy was performed and histology confirmed streak ovaries and well developed fallopian tube. Nineteen years after her original presentation, she desired a child and had a successful pregnancy through in vitro fertilization with oocyte donation program. At 41 weeks of gestation; she delivered a healthy female child by assisted vaginal delivery.
Swyers syndrome is a distinct type of pure gonadal dysgenesis where the patients are phenotypic females without stigmas of Turners syndrome. Complex molecular and morphological events must occur at the right sequence and time for the infant to develop into the correct gender. Mutational change in the testes determining factor gene SRY may result in lack of testicular determination and hence the female phenotype in these patients. Early diagnosis is important, as gonadal neoplasm is common in these patients. Gonadectomy is strongly recommended immediately after the diagnosis is made as the tumours may develop even in infancy. Pregnancy can be achieved through in vitro fertilization by oocyte donation program.