Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.
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.
Tsutsumi
O
O
Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tokyo, Japan.
Iida
T
T
Taketani
Y
Y
Sugase
M
M
Nakahori
Y
Y
Nakagome
Y
Y
D000328:Adult; D001483:Base Sequence; D001827:Body Height / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D012732:Sex Determination Analysis; D014429:Twins, Dizygotic; D014998:Y Chromosome