Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis.
10.3881/j.issn.1000-503X.2016.04.008
- Author:
Jian-Fa JIANG
1
;
Qin-Jie TIAN
1
;
Wei XUE
1
;
Yan DENG
1
;
Ting-Ping ZHENG
1
;
Ai-Jun SUN
1
Author Information
1. Department of Obstetrics and Gynecology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Child;
Estradiol;
blood;
Female;
Follicle Stimulating Hormone;
blood;
Gonadal Dysgenesis, 46,XY;
physiopathology;
Humans;
Luteinizing Hormone;
blood;
Retrospective Studies;
Testis;
abnormalities;
physiopathology;
Testosterone;
blood;
Turner Syndrome;
physiopathology;
Young Adult
- From:
Acta Academiae Medicinae Sinicae
2016;38(4):411-414
- CountryChina
- Language:English
-
Abstract:
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.
