Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report.

BACKGROUND

XY gonadal dysgenesis is characterized by streak gonads in phenotypic females without somatic abnormalities. This case demonstrated a hypoplastic uterus, an unlikely finding for the syndrome, suggesting insufficient function of antimüllerian hormone prenatally.

CASE

A 20-year-old, female virgin was first seen 2 years earlier complaining of primary amenorrhea. She was 168 cm tall, and secondary sexual characteristics, such as breast development and pubic and axillary hair, were absent on physical examination. Chromosome analysis with fluorescence in situ hybridization revealed 46,XY, and a molecular investigation was undertaken to assess the possibility of a mutation in SRY through DNA sequencing. SRY mutations were absent. Bilateral laparoscopic removal of dysgenetic gonads was performed at another medical center immediately after genetic confirmation for an increased risk of malignancy. When the patient was seen 1 year later, we performed ultrasonography because of no menstrual outflow. Pelvic ultrasonography revealed a hypoplastic uterus (26 x 12 mm) with a rudimentary cervix.

CONCLUSION

Clinical phenotypes of different mutations of the Y chromosome, particularly on SRY, may cause Swyer syndrome patients to have a uterus with fertility potential after oocyte donation.