title: A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically.
abstract: A case of pure gonadal dysgenesis was investigated. The patient was an 18-year-old Japanese woman with a history of primary amenorrhea. She had poorly developed breasts, a hypoplastic uterus, a normal vagina and infantile genitalia. The patient's karyotype was 46,XYp-/ 47,XXYp-. Microsatellite analysis revealed that the X chromosomes of this patient originated from one of the two maternal X chromosomes. DNA analysis of the Y chromosome revealed that she had a deletion of SRY (the sex-determining region on the Y chromosome). She underwent laparoscopic gonadectomies with a final pathology consistent with gonadoblastoma. Laparoscopic surgery is recommended as it is much less invasive and associated with rapid postoperative recovery.
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takai
authors.forename: O
authors.initials: O
authors.lastname: Tsutsumi
authors.forename: I
authors.initials: I
authors.lastname: Harada
authors.forename: Y
authors.initials: Y
authors.lastname: Morita
authors.forename: M
authors.initials: M
authors.lastname: Momoeda
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Y
authors.initials: Y
authors.lastname: Taketani
mesh_terms: D000293:Adolescent; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics*; D018238:Gonadoblastoma / Q000150:complications* / Q000601:surgery*; D006801:Humans; D007621:Karyotyping; D010535:Laparoscopy; D009687:Nuclear Proteins; D011110:Polymorphism, Genetic; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA