{
    "abstract": "Persistent M\u00fcllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-M\u00fcllerian hormone (AMH) gene or the anti-M\u00fcllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as \"pathogenic\" or \"likely pathogenic\", and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed M\u00fcllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.",
    "authors": [
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Hong-Juan",
            "initials": "HJ",
            "lastname": "Tian"
        },
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "De-Hua",
            "initials": "DH",
            "lastname": "Wu"
        },
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Wei",
            "initials": "W",
            "lastname": "Ru"
        },
        {
            "affiliation": "Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Ding-Wen",
            "initials": "DW",
            "lastname": "Wu"
        },
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Chang",
            "initials": "C",
            "lastname": "Tao"
        },
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Guang-Jie",
            "initials": "GJ",
            "lastname": "Chen"
        },
        {
            "affiliation": "Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Jin-Na",
            "initials": "JN",
            "lastname": "Yuan"
        },
        {
            "affiliation": "Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Jun-Fen",
            "initials": "JF",
            "lastname": "Fu"
        },
        {
            "affiliation": "Department of Urology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.",
            "firstname": "Da-Xing",
            "initials": "DX",
            "lastname": "Tang"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.4103/aja202175",
    "journal": "Asian journal of andrology",
    "keywords": [
        "AMH",
        "AMHR2",
        "disorders of sex development",
        "persistent M\u00fcllerian duct syndrome"
    ],
    "methods": null,
    "publication_date": "2021-11-24",
    "pubmed_id": "34810374\n2023927\n32172781\n12218580\n16009404\n16150330\n31277073\n25741868\n28528332\n29285121\n30668521\n30933950\n31184456\n32187366\n33025551\n28742509\n28938747\n7758514\n23064803\n20861221\n8872466\n20843948\n16131574\n14673134\n22584735\n29511588\n9187705\n9043511\n19735801\n23133198\n21054481\n33406236",
    "results": null,
    "title": "Surgical management and molecular diagnosis of persistent M\u00fcllerian duct syndrome in Chinese patients.",
    "xml": "<Element 'PubmedArticle' at 0x78850435ba60>"
}