A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.

Journal of pediatric endocrinology & metabolism : JPEM（2023）

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摘要

This case is notable being the rarest type of PMDS, that of transverse testicular ectopia and associated with a novel AMHR2 gene mutation.

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关键词

persistent müllerian duct syndrome,amhr2 gene,inguinal hernia,novel mutation

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