{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:33:01Z","timestamp":1747193581813,"version":"3.40.5"},"reference-count":26,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Background: Persistent m\u00fcllerian duct syndrome (PMDS) is characterized by the persistence of m\u00fcllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-m\u00fcllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes lead to PMDS type 1 and 2, respectively. Aim: The aims of the study were to report the clinical, hormonal, and genetic findings in a patient with PMDS and discuss surgical strategies to achieve successful orchidopexy. Results: A 4-year-old boy was evaluated after the incidental finding of m\u00fcllerian derivates during laparoscopy for nonpalpable gonads. Karyotype was 46,XY and laboratory tests revealed normal serum gonadotropin and androgen levels but undetectable serum AMH levels. PMDS was suspected. Molecular analysis revealed a novel variant c.902_929del in exon 5 and a previously reported mutation (c.367C&gt;T) in exon 1 of the AMH gene. Successful orchidopexy was performed in two sequential surgeries in which the m\u00fcllerian duct structure was preserved and divided to protect the vascular supply to the gonads. Histological evaluation of the testicular biopsy showed mild signs of dysgenesis. Doppler ultrasound showed blood flow in both testes positioned in the scrotum 1.5 years after surgery. Conclusion: PMDS is a rare entity that requires a high index of suspicion (from surgeons) when evaluating a patient with bilateral cryptorchidism. Surgical treatment is challenging and long-term follow-up is essential. Histological evaluation of the testis deserves further investigation. <\/jats:p>","DOI":"10.1159\/000526992","type":"journal-article","created":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T22:00:30Z","timestamp":1673388030000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["A Surgical and Clinical Approach to Persistent M\u00fcllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings"],"prefix":"10.1159","volume":"17","author":[{"given":"Mar\u00eda Celeste","family":"Mattone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0427-4469","authenticated-orcid":false,"given":"Mar\u00eda Victoria","family":"Lobo de la Vega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiro 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