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45,X/46,XY gonadal dysgenesis complicated with ovarian tumor:a report of two cases
Author(s): 
Pages: 642-644
Year: Issue:  9
Journal: New Chinese Medicine

Keyword:  GonadaldysgenesisOvarian gonadoblastoma;
Abstract: 45,X/46,XY karyotype is a rare chromosomal abnormality,which causes the incidence of gonadal dysgenesis.The risk of gonadoblastoma is increased due to dysgenetic gonadal tissues.This study reported two children with 45,X/46,XY gonadal dysgenesis complicated with ovarian tumor.Two affected children were manifested as infantile vulva,breast aplasia and no /scarce pubic hair.Laboratory examination revealed that the levels of follicle stimulating hormone and luteinizing hormone were significantly higher than normal range.B-ultrasound detected funicular uterus and unclear bilateral ovarian.Pathological biopsy found gonadoblastoma.After definite diagnosis,both children underwent bilateral gonadectomy under laparoscope.Subsequent follow-up (postoperative 1 d until the day when manuscript drafting)revealed no signs of tumor re-currence or metastasis.The diagnosis and treatment of these two cases prompt that gonadal dysgenesis can be complicated with ganodoblastoma,which deserves widespread attention from clinicians.
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