Elias-Assad Ghadir, Elias Marwan, Kanety Hannah, Pressman Asher, Tenenbaum-Rakover Yardena
Pediatr Endocrinol Rev. 2016 Jun;13(4):731-40.
Persistent Müllerian duct syndrome (PMDS) is a rare genetic disorder of male internal sexual development defined as lack of regression of Müllerian derivatives in the 46XY male with normally virilized external genitalia and unilateral or bilateral cryptorchidism. Approximately 85% of all cases are caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHR2) with autosomal recessive transmission. This condition is frequently diagnosed incidentally, during surgical repair of inguinal hernia or cryptorchidism. There is no consensus on surgical approach: malignancy risk in the Müllerian duct remnant or undescended testis encourages early removal of the former and bilateral orchiopexy; however, removal of Müllerian structures can impair testicular and vas deferens blood supply, potentially causing infertility. Herein, we report on a male infant with PMDS caused by a novel homozygous missense mutation in AMHR2 (c.928C>T; p.Q310X), review the literature, and discuss the diverse clinical and surgical approaches to this condition.
持续性苗勒管综合征（PMDS）是一种罕见的男性内生殖器发育的遗传性疾病，定义为在具有正常男性化外生殖器和单侧或双侧隐睾的46XY男性中，苗勒管衍生物未退化。所有病例中约85%是由编码抗苗勒管激素（AMH）或其受体（AMHR2）的基因突变引起，呈常染色体隐性遗传。这种疾病常在腹股沟疝或隐睾手术修复过程中偶然被诊断出来。关于手术方式尚无共识：苗勒管残余物或未降睾丸的恶性风险促使早期切除前者并进行双侧睾丸固定术；然而，切除苗勒管结构会损害睾丸和输精管的血液供应，可能导致不育。在此，我们报告一名因AMHR2基因新的纯合错义突变（c.928C>T；p.Q310X）导致PMDS的男婴，回顾相关文献，并讨论针对这种疾病的不同临床和手术方法。
