Spontaneous menstruation has been reported in people with Swyer syndrome. While people with Swyer syndrome typically have functional female genitalia and structures including a vagina, uterus and fallopian tubes, they typically do not have ovaries and are therefore infertile. For this reason, they ordinarily do not produce sex hormones and will not undergo puberty (including starting menstruation) unless treated with hormone replacement therapy. In most cases, Swyer syndrome is not diagnosed until the early teens because a girl with Swyer syndrome does not start her period (primary amenorrhea). However, there have been a few reports in the medical literature of girls with Swyer syndrome having spontaneous menstrual cycles.
It has been suggested that normal pubertal development (including spontaneous menstruation) in people with Swyer syndrome may be associated with the presence of a hormonally active tumor. It has been reported that both male and female sex steroids may be produced by gonadoblastoma and that gonadoblastoma is often the source of hormones in females with an 46,XY karyotype. Gonadoblastoma is a benign tumor but it has the potential for malignant transformation (turning cancerous). Having Swyer syndrome is a known risk factor for the development of this type of tumor. Spontaneous menstruation due to neoplastic estrogen secretion in general has also been reported.
Last updated: 11/16/2015
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please