Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation.
OBJECTIVE
To report a rare presentation of Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis.


METHODS
Case report.


METHODS
Academic gynecology and obstetrics department.


METHODS
A 28-year-old woman with primary amenorrhea.


METHODS
Laparoscopic gonadectomy.


METHODS
Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterus size, height.


RESULTS
The patient had pure 46,XY gonadal dysgenesis with hypoplastic uterus, which is a rare finding in Swyer syndrome. She had developed no gonadal malignancies and, despite receiving estrogen, had remained amenorrheic.


CONCLUSIONS
Further studies should be done on this rare chromosomal condition to find the exact factors affecting the uterus size and to improve the ways of inducing puberty in such patients by considering the age of diagnosis in order to help them have a normal sex life and also the ability to carry a fetus in their immature uteruses.
Karimian
Negar
N
Jondishapour University of Medical Sciences, Faculty of Medicine, Ahvaz, Iran. negar_k_md@yahoo.com
Ghadakzadeh
Saber
S
Eshraghi
Mahdi
M
D000015:Abnormalities, Multiple; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D002369:Castration; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D010535:Laparoscopy; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities* / Q000601:surgery