Pure XY gonadal dysgenesis and agenesis in monozygotic twins.
OBJECTIVE
To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype.


METHODS
Case report.


METHODS
University tertiary hospital.


METHODS
Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma.


METHODS
Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy.


METHODS
Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other.


RESULTS
Dysgerminoma and atrophic ovarian stromal and tubal structures.


CONCLUSIONS
Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.
Chen
Hui-Yu
HY
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Kwei-Shan, Taiwan.
Huang
Hong-Yuan
HY
Chang
Ting-Chang
TC
Lai
Chyong-Huey
CH
Soong
Yung-Kuei
YK
D000293:Adolescent; D004407:Dysgerminoma / Q000235:genetics* / Q000473:pathology; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D014430:Twins, Monozygotic / Q000235:genetics*