Objective:

To evaluate the ultrasonographic features of 46

XY pure gonadal disgenesis

and to investigate the value of ultrasound in the diagnosis of this disease.

Methods:

Seven cases of 46

XY pure gonadal disgenesis from Obstetrics and Gynecology Hospital of Fudan University were retrospectively analyzed during 2011-2015. The patients medical histories

specialized examinations

ultrason examinations

surgery

postoperative pathological examinations

etc. were analyzed.

Results:

All the patients had normal intellectual development

primary amenorrhea

no development of female secondary sexual characteristics

no or few pubic hair or armpit hair

n

o breast development

and infantile internal and external genital organs. Ultrasound showed infantile uterus or absent

no bilateral fallopian tubes or only a streak gonad. Dysplasia or absence of uterus

dysplasia of fallopian tubes or only a streak gonad were visible intraoperatively. Pathological examinations showed 3 cases with dysgerminoma and (or) gonadoblastoma.

Conclusion:

As a noninvasive examination method

ultrasonography has a great advantage in the dianosis of 46

XY pure gonadal disgenesis by displaying the uterus

ovaries

prostate

seminal vesicle and fallopian tubes. It is of great value in the preoperative examination and postoperative follow-up of the disease.