Sex Dev. 2019;13(2):87-91. doi: 10.1159/000499324. Epub 2019 Apr 2.
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS.
持续性米勒管发育不全（PMDS）的特征是在表型正常的男性中存在米勒管衍生物。约 88%的 PMDS 病例中发现 AMH 或 AMHR2 存在纯合子或复合杂合改变。我们报告了一名男性患者，其双侧未降睾丸、米勒管衍生物和正常血清 AMH 水平。在 AMHR2 的外显子 2 中检测到一种新的纯合错义突变 c.119G>C;p.Gly40Ala，支持 PMDS 的临床诊断。
