Recent advances in the treatment of persistent Müllerian duct syndrome

VernacularTitle:苗勒管永存综合征临床治疗的研究进展
Author: Hongjuan TIAN ¹ ; Dehua WU ; Wei RU ; Daxing TANG ; Chang TAO
Author Information

1. 浙江大学医学院附属儿童医院泌尿外科　国家儿童健康与疾病临床医学研究中心，杭州　310029
Keywords: Disorders of sex development; Anti-müllerian hormone; Persistent Müllerian duct syndrome
From: Chinese Journal of Urology 2022;43(8):628-631
CountryChina
Language:Chinese
Abstract: Male sex differentiation is driven by 2 hormones produced by the fetal testis, testosterone and anti-Müllerian hormone(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHR2 lead to the persistent müllerian duct syndrome(PMDS) in otherwise normally virilized 46, XY males. Further assessment was carried out when suspicion of PMDS arose from physical examination which revealed that the testis crossed to the contralateral side of the body. Further examination include ultrasound, AMH concentration, karyotype, and gene sequencing. Once PMDS is considered, there is no need to perform the gonads biopsy. The optical surgery methods include one-stage cryptorchidism and hernia curation, and at the same time.Stripping/destroying the mucosa of the retained müllerian remnants to reduce the risk of malignancy and, simultaneously, to prevent the damage to vas deference.