[A Case of 46,XY pure gonadal dysgenesis with loss of the sex-determining region of Y chromosome].
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.
Yoon
Kui Hyun
KH
Department of Laboratory Medicine, Wonkwang University Sanbon Hospital, Gunpo, Korea.
Lee
Young Jin
YJ
D000328:Adult; D041322:Chromosomes, Human, Y; D005260:Female; D017353:Gene Deletion; D024282:Genes, sry; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016133:Polymerase Chain Reaction