Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis.
Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome. The breast development of 27 patients (84.38%) was less than level 3. The armpit hair was sparse or absent in 28 patients (87.5%) and the pubic hair was sparse or absent in 26 patients (81.25%).Other findings include naive vulva (n=18,56.25%)) and enlarged clitoris (n=5,15.63%). The average level of follicle stimulating hormone was (78.56±35.62) mIU/ml,the luteinizing hormone level was (20.23±11.35) mIU/ml,the estradiol level was (9.94±8.21) pg/ml,and the testosterone level was (0.24±0.18) ng/ml. All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients.Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Jian-Fa
JF
Jiang
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Qin-Jie
QJ
Tian
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Wei
W
Xue
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Yan
Y
Deng
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Ting-Ping
TP
Zheng
Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
Ai-Jun
AJ
Sun
D000293:Adolescent; D000328:Adult; D002648:Child; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000503:physiopathology*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D012189:Retrospective Studies; D013737:Testis / Q000002:abnormalities* / Q000503:physiopathology; D013739:Testosterone / Q000097:blood; D014424:Turner Syndrome / Q000503:physiopathology*; D055815:Young Adult
D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone