<i>AMHR2</i> mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy with preservation of the Müllerian structures to maintain future fertility options. Due to the abnormal appearance of the testes, a biopsy revealed normal testis tissue without any ovarian tissue. Genetic testing identified a unique mutation in each copy of the AMHR2 gene: c.322A&gt;C and c.658G&gt;C. Neither mutation has been previously reported. Conclusion This case highlights the importance of considering PMDS in male infants presenting with transverse testicular ectopia. Early recognition and fertility‐preserving surgical management are essential, and novel genetic variants continue to expand the mutational spectrum of AMHR2 ‐related PMDS.