Clinical characteristics of persistent Müllerian duct syndrome
Objective To explore the clinical characteristics of persistent Müllerian duct syndrome(PMDS)and to examine testicular functions and its influencing factors as well as malignant degeneration of testicular in children.Methods From January 2010 to April 2022,a descriptive study was conducted for 5 hospitalized PMDS boys with a median age of 15(5-26)months.External masculinization score(EMS)was utilized for evaluating external genitalia.And human chorionic gonadotropin(hCG)stimulation test was employed for assessing gonadal function.Ultrasonography,genetic analysis,surgical procedures and pathological findings were recorded.Results There were bilateral cryptorchidism(n=3),unilateral cryptorchidism(n=1)and transverse testicular ectopia(n=1).All external genitalia showed mild-to-moderate under-masculinization according to EMS.And 4/5 patients showed decent functions of Leydig cells after hCG stimulation test with a testosterone level of 14.68 to 29.10 nmol/L.Anti-Mullerian hormone(AMH)level was low(n=3),normal(n=1)and non-detected(n=1)at an initial diagnosis.Mullerian remnants(MRs,n=3)were detected by pelvic ultrasonography.However,one child received no pelvic ultrasound examination.All karyotypes were 46,XY.Whole exome sequencing revealed AMH(n=2)and AMHR2 gene mutation(n=2).Laparoscopy and orchidopexy were performed simultaneously and MRs were present.Gonad biopsies revealed testicular tissue with dysplasia(n=4).Conclusion PMDS should be suspected in children with cryptorchidism and orchidopexy performed at an earlier stage.The risk of testicular tumor is much higher in PMDS than in those with cryptorchidism.Close monitoring is required.
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