Clinical characteristics and molecular genetics of six patients with Swyer syndrome

Objective To analyze the clinical data of six patients with Swyer syndrome and to explore the genetic defects in this disease.Methods The clinical features and laboratory data of six patients were collected.The exon or fragments of sex-determining region of Y-chromosome (SRY) gene were amplified by PCR.Results All six patients had 46,XY karyotype,presenting with primary amenorrhea,female infant vulva,tiny uterus without testis or prostate.Ovarian or streak gonads were detected in three of them.Sequencing analysis showed that the missense mutations,p.R62G,p.R76L,and p.S151 * were identified in three patients respectively,and there were a large fragment deletion in one patient and no mutation or deletion in two patients.The mutations of p.R76L and p.S151 *,and the large fragment deletion of SRY gene were not previously reported.Conclusion SRY mutation and deletion are the main causes of Swyer syndrome.The patients with Swyer syndrome should be screened for SRY gene mutations by priority. Key words: Swyer syndrome ;  SRY gene ;  Mutation ;  Deletion