title: Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis.
abstract: The sex-determining region on the Y chromosome (SRY) encodes a gene that has many of the properties expected of the testis-determining factor. The XY pure gonadal dysgenesis is characterized by streak gonads in phenotypic females who lack the somatic abnormalities and short stature associated with Turner's syndrome. Abnormalities within the SRY have been described in these patients. However, we have experienced several patients with short stature whose SRY are apparently normal. The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in two of the present cases may be due to mutation at a locus other than SRY in the sex determining pathway, a gene potentially involved in the determination of human constitution. The risk of developing malignancy in the dysgenetic gonads has been reported to be 25%, dictating early prophylactic removal of the streaks. Laparoscopic surgery is recommended because of the amount of the surgery and the rapid postoperative recovery of the patient.
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Tsutsumi
authors.forename: T
authors.initials: T
authors.lastname: Iida
authors.forename: Y
authors.initials: Y
authors.lastname: Taketani
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D015342:DNA Probes; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D010535:Laparoscopy; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: D015342:DNA Probes