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Introduction
Persistent Müllerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism characterized by Müllerian duct (MD) derivatives in the genotypes and phenotypes of males with a 46,XY karyotype (1,2). Normally, Sertoli cells begin to produce anti-Müllerian hormone (AMH) during week 7 of gestation, causing MD regression. However, MDs remain in patients with PMDS, due to a deficiency of AMH or a defect in the AMH type II receptor (AMHR-II) (1). PMDS is complex and anatomically variable, which makes diagnosis challenging. Patients with PMDS are categorized into three types, according to the position of the testes and uterus: i) The female type occurs in 60–70% of patients, in which the bilateral testes and epididymis are connected to the fallopian tubes in the abdomen, the bilateral testes are in analogue positions to the ovaries and their inguinal sacs remain empty; ii) the Uteri Inguinal type occurs in 20–30% of patients that exhibit a testis in the hernia sac, or a scrotal testis with a contra lateral testis located in the abdomen; and iii) the transverse testicular ectopia makes up the smallest group as it is only classified in ~10% of patients where the two testes are present in the same hernia sac along with the uterus and uterine tubes (3,4).
The incidence of PMDS is low, with only 150 cases documented globally (5). Only ~13 cases have been diagnosed in China, all without the use of genetic analysis (6,7). Due to a lack of distinctive clinical features in its early stages, PMDS is typically diagnosed in children when they are tested for other diseases, including cryptorchidism or inguinal hernia, or in adults when they are tested for sterility or oligospermia. The impact on fertility in adults with PMDS diagnosed and treated during childhood remains unknown. However, according to two case reports, delayed diagnosis at adulthood may cause infertility (8,9). The correct diagnosis of PMDS relies on a systematic endocrine assessment and analysis of mutations in the genes coding for AMH (Fig. 1) and AMHR-II (Fig. 2). At present, the treatment of PMDS consists of repairing the external genitalia, which keeps MD structures in the abdomen intact (4). The current study documents the case of a 17-month-old patient diagnosed with PMDS, and presents a review...