Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo, Japan.
Endocr J. 1994 Jun;41(3):281-5. doi: 10.1507/endocrj.41.281.
A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a height of 146 cm. She has a phenotypically and karyotypically normal dizygotic twin brother with normal development. Southern-blot and polymerase chain-reaction analyses revealed no apparent deletions in the patient's Y chromosome, including the sex-determining region Y (SRY). The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in the present case 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.
对一名核型为46, XY且表面看似正常，但患有单纯性腺发育不全且身材矮小的患者进行了调查。该患者生长发育迟缓，是一名30岁已婚日本女性，有原发性闭经和不孕史，体重42公斤，身高146厘米。她有一个表型和核型均正常、发育正常的异卵双胞胎兄弟。Southern印迹和聚合酶链反应分析显示，患者的Y染色体，包括性别决定区域Y（SRY），没有明显缺失。SRY基因的DNA测序显示，其核苷酸序列与已报道的克隆序列100%相同。本病例中的性反转可能是由于性别决定途径中SRY以外的位点发生突变，该基因可能参与人类体质的决定。
